MSH3 (mutS homolog 3) - Rat Genome Database

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Gene: MSH3 (mutS homolog 3) Homo sapiens
Analyze
Symbol: MSH3
Name: mutS homolog 3
RGD ID: 1353031
HGNC Page HGNC:7326
Description: Enables enzyme binding activity. Contributes to dinucleotide repeat insertion binding activity; single guanine insertion binding activity; and single-stranded DNA binding activity. Involved in DNA metabolic process; negative regulation of DNA recombination; and positive regulation of helicase activity. Located in nucleus. Part of MutSbeta complex. Implicated in colorectal carcinoma; endometrial cancer; endometrial carcinoma; familial adenomatous polyposis 4; and lung non-small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: divergent upstream protein; DNA mismatch repair protein Msh3; DUP; FAP4; hMSH3; MGC163306; MGC163308; mismatch repair protein 1; MRP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38580,654,652 - 80,876,815 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl580,654,652 - 80,876,815 (+)EnsemblGRCh38hg38GRCh38
GRCh37579,950,471 - 80,172,634 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36579,986,050 - 80,208,390 (+)NCBINCBI36Build 36hg18NCBI36
Build 34579,986,294 - 80,208,389NCBI
Celera575,854,379 - 76,076,910 (+)NCBICelera
Cytogenetic Map5q14.1NCBI
HuRef575,159,370 - 75,381,401 (+)NCBIHuRef
CHM1_1579,383,713 - 79,605,325 (+)NCBICHM1_1
T2T-CHM13v2.0581,139,552 - 81,361,456 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (HDA)
MutSbeta complex  (IDA,IPI)
nucleoplasm  (TAS)
nucleus  (IBA,IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mechanisms and functions of DNA mismatch repair. Li GM Cell Res. 2008 Jan;18(1):85-98.
3. Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients. Liu JY, etal., Chin J Cancer. 2017 Jan 16;36(1):12. doi: 10.1186/s40880-016-0175-2.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. Risinger JI, etal., Nat Genet. 1996 Sep;14(1):102-5.
10. Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas. Yin J, etal., Hum Mutat. 1997;10(6):474-8.
Additional References at PubMed
PMID:2722860   PMID:6323448   PMID:8029024   PMID:8805365   PMID:8838312   PMID:8851770   PMID:8942985   PMID:9677427   PMID:9774676   PMID:10029069   PMID:10871409   PMID:10944853  
PMID:11005803   PMID:11274057   PMID:11427529   PMID:11498787   PMID:11756455   PMID:11809883   PMID:11895912   PMID:11920679   PMID:12014680   PMID:12171929   PMID:12477932   PMID:14510941  
PMID:14578343   PMID:14625810   PMID:14657349   PMID:14871813   PMID:15489334   PMID:15541380   PMID:16025128   PMID:16388310   PMID:16552576   PMID:16774946   PMID:17148452   PMID:17205513  
PMID:17314511   PMID:17456004   PMID:17494052   PMID:17676485   PMID:17715146   PMID:17950544   PMID:18029348   PMID:18355840   PMID:18364438   PMID:18676680   PMID:18683134   PMID:18701435  
PMID:18723338   PMID:18922920   PMID:19064572   PMID:19115210   PMID:19170196   PMID:19237606   PMID:19377479   PMID:19468048   PMID:19525234   PMID:19536092   PMID:19596235   PMID:19625176  
PMID:19692168   PMID:19730683   PMID:19894224   PMID:19913121   PMID:19946888   PMID:19948975   PMID:20154325   PMID:20160730   PMID:20188637   PMID:20379614   PMID:20453000   PMID:20496165  
PMID:20628086   PMID:20632816   PMID:20708618   PMID:20845481   PMID:20869096   PMID:21128252   PMID:21285347   PMID:21344488   PMID:21549307   PMID:21873635   PMID:21957315   PMID:21960445  
PMID:21974800   PMID:21988832   PMID:22110587   PMID:22179786   PMID:22249440   PMID:22343000   PMID:22939629   PMID:22941650   PMID:23226332   PMID:23339595   PMID:23724141   PMID:23858473  
PMID:24332808   PMID:24882211   PMID:24934723   PMID:25416956   PMID:25461668   PMID:25598504   PMID:25609649   PMID:25921289   PMID:25966119   PMID:26095369   PMID:26212458   PMID:26300262  
PMID:26344197   PMID:26496610   PMID:26617824   PMID:26870752   PMID:26994442   PMID:27114453   PMID:27248496   PMID:27337956   PMID:27476653   PMID:27546332   PMID:28514442   PMID:28528517  
PMID:28642124   PMID:28656302   PMID:28973443   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29892012   PMID:29955894   PMID:29987050   PMID:30021884   PMID:30154076  
PMID:30258100   PMID:30277474   PMID:30554943   PMID:30590005   PMID:30686591   PMID:30804502   PMID:30884312   PMID:30948266   PMID:31091453   PMID:31240132   PMID:31342644   PMID:31343991  
PMID:31353912   PMID:31495888   PMID:31515488   PMID:31549400   PMID:31789935   PMID:31871319   PMID:31953835   PMID:32284349   PMID:32296183   PMID:32416067   PMID:32780723   PMID:32786267  
PMID:33111431   PMID:33596761   PMID:33961781   PMID:34079125   PMID:34250384   PMID:34369648   PMID:34469738   PMID:34591612   PMID:34709727   PMID:35241646   PMID:35334159   PMID:35439318  
PMID:35675019   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36089195   PMID:36114006   PMID:36215168   PMID:37059091   PMID:37071664   PMID:37140056   PMID:37402566   PMID:37689310  
PMID:37827155   PMID:37888748   PMID:38281411   PMID:38297188   PMID:39003369  


Genomics

Comparative Map Data
MSH3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38580,654,652 - 80,876,815 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl580,654,652 - 80,876,815 (+)EnsemblGRCh38hg38GRCh38
GRCh37579,950,471 - 80,172,634 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36579,986,050 - 80,208,390 (+)NCBINCBI36Build 36hg18NCBI36
Build 34579,986,294 - 80,208,389NCBI
Celera575,854,379 - 76,076,910 (+)NCBICelera
Cytogenetic Map5q14.1NCBI
HuRef575,159,370 - 75,381,401 (+)NCBIHuRef
CHM1_1579,383,713 - 79,605,325 (+)NCBICHM1_1
T2T-CHM13v2.0581,139,552 - 81,361,456 (+)NCBIT2T-CHM13v2.0
Msh3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391392,348,387 - 92,491,515 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1392,348,380 - 92,491,511 (-)EnsemblGRCm39 Ensembl
GRCm381392,211,878 - 92,355,004 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1392,211,872 - 92,355,003 (-)EnsemblGRCm38mm10GRCm38
MGSCv371392,981,836 - 93,124,958 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361393,312,634 - 93,455,756 (-)NCBIMGSCv36mm8
Celera1395,828,509 - 95,961,232 (-)NCBICelera
Cytogenetic Map13C3NCBI
cM Map1347.63NCBI
Msh3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8225,179,400 - 25,320,857 (-)NCBIGRCr8
mRatBN7.2223,444,326 - 23,585,777 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx230,479,042 - 30,620,224 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0228,579,397 - 28,720,585 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0223,406,403 - 23,548,408 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0221,790,048 - 21,931,791 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl221,790,044 - 21,931,720 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0240,996,035 - 41,137,686 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4222,462,934 - 22,606,874 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera219,534,848 - 19,675,746 (-)NCBICelera
Cytogenetic Map2q12NCBI
Msh3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541829,150,085 - 29,274,437 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541829,149,595 - 29,274,067 (-)NCBIChiLan1.0ChiLan1.0
MSH3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2434,432,400 - 34,653,426 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1532,582,453 - 32,806,981 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0534,408,469 - 34,663,483 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1534,719,261 - 34,938,521 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl534,719,322 - 34,938,469 (-)Ensemblpanpan1.1panPan2
MSH3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1326,335,788 - 26,520,633 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl326,336,403 - 26,518,521 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha327,571,200 - 27,762,336 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0326,250,075 - 26,441,642 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl326,250,084 - 26,441,647 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1326,190,404 - 26,381,864 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0326,171,404 - 26,356,535 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0326,451,047 - 26,636,178 (-)NCBIUU_Cfam_GSD_1.0
Msh3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213182,351,062 - 182,542,651 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646983,285 - 273,561 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646982,967 - 275,772 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSH3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl289,250,003 - 89,453,936 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1289,255,647 - 89,456,102 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2291,102,138 - 91,281,732 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MSH3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1474,811,181 - 75,032,067 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl474,811,198 - 75,032,005 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604923,674,149 - 23,899,258 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Msh3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247431,461,077 - 1,581,180 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247431,461,952 - 1,581,524 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MSH3
4101 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002439.5(MSH3):c.1148del (p.Lys383fs) deletion Endometrial carcinoma [RCV000240050]|Familial adenomatous polyposis 4 [RCV000009277]|Hereditary cancer-predisposing syndrome [RCV001017472]|MSH3-related disorder [RCV003944809]|not provided [RCV000822053] Chr5:80675096 [GRCh38]
Chr5:79970915 [GRCh37]
Chr5:5q14.1		 pathogenic|likely pathogenic|other
NM_002439.5(MSH3):c.1763+31C>A single nucleotide variant not specified [RCV003321011] Chr5:80744646 [GRCh38]
Chr5:80040465 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1897-38A>G single nucleotide variant not specified [RCV003321012] Chr5:80767895 [GRCh38]
Chr5:80063714 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.3131-41G>A single nucleotide variant not specified [RCV003321018] Chr5:80873075 [GRCh38]
Chr5:80168894 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.3131-23G>C single nucleotide variant not specified [RCV003321019] Chr5:80873093 [GRCh38]
Chr5:80168912 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.3302+44_3302+46del deletion not specified [RCV003321020] Chr5:80873329..80873331 [GRCh38]
Chr5:80169148..80169150 [GRCh37]
Chr5:5q14.1		 benign
NM_000791.4(DHFR):c.-425_-417dup duplication Endometrial carcinoma [RCV000601631]|Hereditary cancer-predisposing syndrome [RCV002256416]|not provided [RCV001613402]|not specified [RCV001692225] Chr5:80654905..80654906 [GRCh38]
Chr5:79950724..79950725 [GRCh37]
Chr5:5q14.1		 benign
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1		 pathogenic
GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1 copy number loss See cases [RCV000052576] Chr5:79665668..81197686 [GRCh38]
Chr5:78961491..80493505 [GRCh37]
Chr5:78997247..80529261 [NCBI36]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.679A>T (p.Ser227Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166705]|not provided [RCV001302614] Chr5:80670196 [GRCh38]
Chr5:79966015 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.617C>T (p.Ser206Leu) single nucleotide variant not provided [RCV001302887] Chr5:80670134 [GRCh38]
Chr5:79965953 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2854T>C (p.Phe952Leu) single nucleotide variant not provided [RCV001945016]|not specified [RCV004596495] Chr5:80854170 [GRCh38]
Chr5:80149989 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1619C>T (p.Thr540Ile) single nucleotide variant not provided [RCV001349571] Chr5:80741514 [GRCh38]
Chr5:80037333 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1553T>C (p.Met518Thr) single nucleotide variant not provided [RCV001304059] Chr5:80728950 [GRCh38]
Chr5:80024769 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2348C>T (p.Pro783Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166636]|not provided [RCV001294546] Chr5:80778749 [GRCh38]
Chr5:80074568 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1615G>A (p.Gly539Arg) single nucleotide variant not provided [RCV001313019] Chr5:80741510 [GRCh38]
Chr5:80037329 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2345C>T (p.Ser782Phe) single nucleotide variant Endometrial carcinoma [RCV003469527]|Hereditary cancer-predisposing syndrome [RCV003365311]|not provided [RCV001303561] Chr5:80778746 [GRCh38]
Chr5:80074565 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] microsatellite Constitutional megaloblastic anemia with severe neurologic disease [RCV001801492]|Hereditary cancer-predisposing syndrome [RCV002256112]|not provided [RCV000951258]|not specified [RCV000202801] Chr5:80654908..80654909 [GRCh38]
Chr5:79950727..79950728 [GRCh37]
Chr5:5q14.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002439.5(MSH3):c.2319-1G>A single nucleotide variant Endometrial carcinoma [RCV003463710]|Familial adenomatous polyposis 4 [RCV000240037]|Hereditary cancer-predisposing syndrome [RCV001015164]|not provided [RCV000801200] Chr5:80778719 [GRCh38]
Chr5:80074538 [GRCh37]
Chr5:5q14.1		 pathogenic|likely pathogenic
NM_002439.5(MSH3):c.3001-2A>C single nucleotide variant Familial adenomatous polyposis 4 [RCV000240222] Chr5:80864811 [GRCh38]
Chr5:80160630 [GRCh37]
Chr5:5q14.1		 pathogenic
NM_002439.5(MSH3):c.2760del (p.Tyr921fs) deletion Endometrial carcinoma [RCV003463709]|Familial adenomatous polyposis 4 [RCV000240520]|Hereditary cancer-predisposing syndrome [RCV002256182]|not provided [RCV000808056] Chr5:80813687 [GRCh38]
Chr5:80109506 [GRCh37]
Chr5:5q14.1		 pathogenic|likely pathogenic
NM_002439.5(MSH3):c.859A>C (p.Thr287Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443293]|not provided [RCV002281372] Chr5:80672310 [GRCh38]
Chr5:79968129 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2891G>A (p.Arg964Lys) single nucleotide variant not provided [RCV001964104] Chr5:80854207 [GRCh38]
Chr5:80150026 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_000791.4(DHFR):c.-444G>A single nucleotide variant not specified [RCV003320296] Chr5:80654933 [GRCh38]
Chr5:79950752 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2412dup (p.Ala805fs) duplication Familial adenomatous polyposis 4 [RCV003316926] Chr5:80778812..80778813 [GRCh38]
Chr5:80074631..80074632 [GRCh37]
Chr5:5q14.1		 pathogenic
NM_002439.5(MSH3):c.237+40G>A single nucleotide variant not specified [RCV003320303] Chr5:80655004 [GRCh38]
Chr5:79950823 [GRCh37]
Chr5:5q14.1		 likely benign
NM_000791.4(DHFR):c.-214C>T single nucleotide variant not specified [RCV003320526] Chr5:80654703 [GRCh38]
Chr5:79950522 [GRCh37]
Chr5:5q14.1		 likely benign
NM_000791.4(DHFR):c.-420_-419insGGGGCGCTGCGGCCGCTG insertion not specified [RCV003320530] Chr5:80654908..80654909 [GRCh38]
Chr5:79950727..79950728 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1028-27T>C single nucleotide variant not specified [RCV003321007] Chr5:80674956 [GRCh38]
Chr5:79970775 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1340+32G>A single nucleotide variant not specified [RCV003321008] Chr5:80679125 [GRCh38]
Chr5:79974944 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2285C>T (p.Ser762Phe) single nucleotide variant not provided [RCV001367533] Chr5:80775725 [GRCh38]
Chr5:80071544 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.190_191insAGCGCCCGCAGCGCCCCC (p.Pro63_Pro64insGlnArgProGlnArgPro) microsatellite not specified [RCV002279996] Chr5:80654913..80654914 [GRCh38]
Chr5:79950732..79950733 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1642C>G (p.Leu548Val) single nucleotide variant not provided [RCV001368095] Chr5:80741537 [GRCh38]
Chr5:80037356 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.3092G>C (p.Gly1031Ala) single nucleotide variant Endometrial carcinoma [RCV004570901]|Hereditary cancer-predisposing syndrome [RCV002256750]|not provided [RCV001368103] Chr5:80864904 [GRCh38]
Chr5:80160723 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2690C>G (p.Pro897Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283908]|not provided [RCV001052042] Chr5:80813618 [GRCh38]
Chr5:80109437 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.287C>T (p.Pro96Leu) single nucleotide variant Endometrial carcinoma [RCV003467416]|Familial adenomatous polyposis 4 [RCV001336466]|Hereditary cancer-predisposing syndrome [RCV002257971]|MSH3-related disorder [RCV003955517]|not provided [RCV000806227] Chr5:80656460 [GRCh38]
Chr5:79952279 [GRCh37]
Chr5:5q14.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q14.1(chr5:79678575-80868550)x3 copy number gain See cases [RCV000448914] Chr5:79678575..80868550 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_000791.4(DHFR):c.-473T>C single nucleotide variant Constitutional megaloblastic anemia with severe neurologic disease [RCV001285036]|Hereditary cancer-predisposing syndrome [RCV001015285]|not provided [RCV001511632]|not specified [RCV000454914] Chr5:80654962 [GRCh38]
Chr5:79950781 [GRCh37]
Chr5:5q14.1		 benign
NM_000791.4(DHFR):c.-442_-434del deletion Constitutional megaloblastic anemia with severe neurologic disease [RCV001285035]|Hereditary cancer-predisposing syndrome [RCV002257683]|not provided [RCV001637018]|not specified [RCV000455926] Chr5:80654923..80654931 [GRCh38]
Chr5:79950742..79950750 [GRCh37]
Chr5:5q14.1		 benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_002439.5(MSH3):c.2341C>A (p.His781Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301985] Chr5:80778742 [GRCh38]
Chr5:80074561 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.3398C>G (p.Thr1133Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301986] Chr5:80875846 [GRCh38]
Chr5:80171665 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.452T>A (p.Val151Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302001] Chr5:80665236 [GRCh38]
Chr5:79961055 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.3334A>G (p.Thr1112Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302008] Chr5:80875782 [GRCh38]
Chr5:80171601 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1141A>G (p.Lys381Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293242]|not provided [RCV003708766] Chr5:80675096 [GRCh38]
Chr5:79970915 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2510T>C (p.Leu837Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293249]|not provided [RCV003708767] Chr5:80787639 [GRCh38]
Chr5:80083458 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.854T>C (p.Ile285Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293250]|not provided [RCV003699063] Chr5:80672305 [GRCh38]
Chr5:79968124 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2084+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301983] Chr5:80768121 [GRCh38]
Chr5:80063940 [GRCh37]
Chr5:5q14.1		 likely pathogenic
NM_002439.5(MSH3):c.3099G>C (p.Leu1033Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301988] Chr5:80864911 [GRCh38]
Chr5:80160730 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.509A>T (p.Asp170Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301993] Chr5:80665293 [GRCh38]
Chr5:79961112 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2955T>C (p.Asp985=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301997] Chr5:80854271 [GRCh38]
Chr5:80150090 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1446C>T (p.Asp482=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302003] Chr5:80725558 [GRCh38]
Chr5:80021377 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1472G>C (p.Gly491Ala) single nucleotide variant Diffuse midline glioma, H3 K27-altered [RCV003313830] Chr5:80728869 [GRCh38]
Chr5:80024688 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2584G>C (p.Gly862Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293235] Chr5:80792773 [GRCh38]
Chr5:80088592 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.46T>A (p.Ser16Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293241] Chr5:80654773 [GRCh38]
Chr5:79950592 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.3302G>A (p.Arg1101Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293248]|not provided [RCV003777194] Chr5:80873287 [GRCh38]
Chr5:80169106 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.420C>G (p.Phe140Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293240] Chr5:80665204 [GRCh38]
Chr5:79961023 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1659T>C (p.Asp553=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293251]|not provided [RCV003561289] Chr5:80744511 [GRCh38]
Chr5:80040330 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2845C>T (p.Gln949Ter) single nucleotide variant Endometrial carcinoma [RCV003464102]|Hereditary cancer-predisposing syndrome [RCV002438238]|not provided [RCV000512940] Chr5:80854161 [GRCh38]
Chr5:80149980 [GRCh37]
Chr5:5q14.1		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3 copy number gain not provided [RCV000682570] Chr5:79625636..80884586 [GRCh37]
Chr5:5q14.1		 uncertain significance
GRCh37/hg19 5q14.1(chr5:80080727-80490942)x3 copy number gain not provided [RCV000682572] Chr5:80080727..80490942 [GRCh37]
Chr5:5q14.1		 uncertain significance
GRCh37/hg19 5q14.1(chr5:79992417-80346470)x3 copy number gain not provided [RCV000682571] Chr5:79992417..80346470 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1914CTT[1] (p.Phe639del) microsatellite Endometrial carcinoma [RCV000709806]|Hereditary cancer-predisposing syndrome [RCV002406654]|not provided [RCV000797172] Chr5:80767948..80767950 [GRCh38]
Chr5:80063767..80063769 [GRCh37]
Chr5:5q14.1		 uncertain significance|not provided
NM_002439.5(MSH3):c.598C>G (p.Leu200Val) single nucleotide variant not provided [RCV000806162] Chr5:80670115 [GRCh38]
Chr5:79965934 [GRCh37]
Chr5:5q14.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q14.1(chr5:79939471-80073634)x1 copy number loss not provided [RCV000744890] Chr5:79939471..80073634 [GRCh37]
Chr5:5q14.1		 benign
GRCh37/hg19 5q14.1(chr5:79990131-80337995)x3 copy number gain not provided [RCV000744891] Chr5:79990131..80337995 [GRCh37]
Chr5:5q14.1		 benign
NM_002439.5(MSH3):c.2919C>T (p.Ile973=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434338]|not provided [RCV000976604] Chr5:80854235 [GRCh38]
Chr5:80150054 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1454-5del deletion Endometrial carcinoma [RCV002489253]|Hereditary cancer-predisposing syndrome [RCV003169408]|not provided [RCV000938090]|not specified [RCV004596380] Chr5:80728843 [GRCh38]
Chr5:80024662 [GRCh37]
Chr5:5q14.1		 benign|likely benign
NM_002439.5(MSH3):c.1872A>G (p.Gly624=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259059]|not provided [RCV000938119] Chr5:80761654 [GRCh38]
Chr5:80057473 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1654-7T>G single nucleotide variant not provided [RCV000940373] Chr5:80744499 [GRCh38]
Chr5:80040318 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.3297G>A (p.Thr1099=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454155]|not provided [RCV000940483] Chr5:80873282 [GRCh38]
Chr5:80169101 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.210C>T (p.Ala70=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004639415]|not provided [RCV000936186] Chr5:80654937 [GRCh38]
Chr5:79950756 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1251G>A (p.Arg417=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409225]|MSH3-related disorder [RCV003983285]|not provided [RCV000936225] Chr5:80679004 [GRCh38]
Chr5:79974823 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2898A>G (p.Ala966=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434253]|not provided [RCV000936243] Chr5:80854214 [GRCh38]
Chr5:80150033 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.318A>G (p.Gln106=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320143]|not provided [RCV000940616] Chr5:80656491 [GRCh38]
Chr5:79952310 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1182G>A (p.Gln394=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337026]|not provided [RCV000979775] Chr5:80678935 [GRCh38]
Chr5:79974754 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2319-7C>T single nucleotide variant not provided [RCV000938268] Chr5:80778713 [GRCh38]
Chr5:80074532 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.279T>C (p.Asn93=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434273]|not provided [RCV000939008] Chr5:80656452 [GRCh38]
Chr5:79952271 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1434A>G (p.Lys478=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390982]|not provided [RCV000939076] Chr5:80725546 [GRCh38]
Chr5:80021365 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1377T>C (p.Asp459=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256638]|not provided [RCV000978245] Chr5:80725489 [GRCh38]
Chr5:80021308 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.150C>T (p.Gly50=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391030]|not provided [RCV000980469] Chr5:80654877 [GRCh38]
Chr5:79950696 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2010C>T (p.Thr670=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014073]|MSH3-related disorder [RCV003978100]|not provided [RCV000936353]|not specified [RCV002465811] Chr5:80768046 [GRCh38]
Chr5:80063865 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1749A>C (p.Pro583=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012970]|not provided [RCV000938520] Chr5:80744601 [GRCh38]
Chr5:80040420 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.3191C>T (p.Ala1064Val) single nucleotide variant Endometrial carcinoma [RCV003462560]|Hereditary cancer-predisposing syndrome [RCV002320294]|not provided [RCV001053597]|not specified [RCV004596399] Chr5:80873176 [GRCh38]
Chr5:80168995 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter) single nucleotide variant Familial adenomatous polyposis 4 [RCV000987530]|Hereditary cancer-predisposing syndrome [RCV001014807]|not provided [RCV001048457] Chr5:80768962 [GRCh38]
Chr5:80064781 [GRCh37]
Chr5:5q14.1		 pathogenic|likely pathogenic
NM_002439.5(MSH3):c.237+2T>C single nucleotide variant Endometrial carcinoma [RCV003467773]|Hereditary cancer-predisposing syndrome [RCV002256666]|not provided [RCV001053813] Chr5:80654966 [GRCh38]
Chr5:79950785 [GRCh37]
Chr5:5q14.1		 pathogenic|likely pathogenic
NM_002439.5(MSH3):c.1140C>G (p.Asp380Glu) single nucleotide variant not provided [RCV001054066] Chr5:80675095 [GRCh38]
Chr5:79970914 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.232C>T (p.His78Tyr) single nucleotide variant Endometrial carcinoma [RCV004570246]|Hereditary cancer-predisposing syndrome [RCV002445323]|not provided [RCV001061079] Chr5:80654959 [GRCh38]
Chr5:79950778 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2489C>A (p.Thr830Asn) single nucleotide variant Endometrial carcinoma [RCV004570210]|not provided [RCV001054795] Chr5:80787618 [GRCh38]
Chr5:80083437 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.257G>A (p.Arg86Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451227]|not provided [RCV001055536] Chr5:80656430 [GRCh38]
Chr5:79952249 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2913G>C (p.Leu971Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436622]|not provided [RCV001056458] Chr5:80854229 [GRCh38]
Chr5:80150048 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer) deletion Endometrial carcinoma [RCV003461303]|Familial adenomatous polyposis 4 [RCV003458585]|Hereditary cancer-predisposing syndrome [RCV001017087]|not provided [RCV000998402] Chr5:80674990 [GRCh38]
Chr5:79970809 [GRCh37]
Chr5:5q14.1		 pathogenic|likely pathogenic
NM_002439.5(MSH3):c.2253+141_2253+143del deletion not provided [RCV001612896] Chr5:80769144..80769146 [GRCh38]
Chr5:80064963..80064965 [GRCh37]
Chr5:5q14.1		 benign
NM_002439.5(MSH3):c.1452A>G (p.Lys484=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393294]|not provided [RCV001060408] Chr5:80725564 [GRCh38]
Chr5:80021383 [GRCh37]
Chr5:5q14.1		 likely benign|uncertain significance
NM_002439.5(MSH3):c.903A>G (p.Gly301=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374952]|not provided [RCV001060521] Chr5:80672354 [GRCh38]
Chr5:79968173 [GRCh37]
Chr5:5q14.1		 likely benign|uncertain significance
NM_000791.4(DHFR):c.-411G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409161]|not provided [RCV000905511]|not specified [RCV002282403] Chr5:80654900 [GRCh38]
Chr5:79950719 [GRCh37]
Chr5:5q14.1		 benign|likely benign
NM_002439.5(MSH3):c.1560C>T (p.Ser520=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400089]|not provided [RCV000944736] Chr5:80728957 [GRCh38]
Chr5:80024776 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.238-8C>T single nucleotide variant not provided [RCV000929525] Chr5:80656403 [GRCh38]
Chr5:79952222 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.3131-5C>T single nucleotide variant not provided [RCV000944888] Chr5:80873111 [GRCh38]
Chr5:80168930 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.225G>A (p.Leu75=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258069]|not provided [RCV000944891] Chr5:80654952 [GRCh38]
Chr5:79950771 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.153TGCAGCGGC[3] (p.Ala62_Pro63insAlaAlaAla) microsatellite Hereditary cancer-predisposing syndrome [RCV002256590]|not provided [RCV000901599] Chr5:80654877..80654878 [GRCh38]
Chr5:79950696..79950697 [GRCh37]
Chr5:5q14.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002439.5(MSH3):c.285G>A (p.Gly95=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434362]|not provided [RCV000981919] Chr5:80656458 [GRCh38]
Chr5:79952277 [GRCh37]
Chr5:5q14.1		 likely benign
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG insertion Hereditary cancer-predisposing syndrome [RCV002256628]|not provided [RCV000950405]|not specified [RCV001580107] Chr5:80654905..80654906 [GRCh38]
Chr5:79950724..79950725 [GRCh37]
Chr5:5q14.1		 benign|likely benign
NM_002439.5(MSH3):c.1623A>G (p.Thr541=) single nucleotide variant not provided [RCV000929537] Chr5:80741518 [GRCh38]
Chr5:80037337 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.126T>C (p.Gly42=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372580]|not provided [RCV000928053] Chr5:80654853 [GRCh38]
Chr5:79950672 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.690G>A (p.Thr230=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363385]|not provided [RCV000923014]|not specified [RCV003320769] Chr5:80670207 [GRCh38]
Chr5:79966026 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016432]|MSH3-related disorder [RCV004751782]|not provided [RCV000882505]|not specified [RCV001817081] Chr5:80813660 [GRCh38]
Chr5:80109479 [GRCh37]
Chr5:5q14.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002439.5(MSH3):c.840T>C (p.Phe280=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445044]|not provided [RCV000928597] Chr5:80672291 [GRCh38]
Chr5:79968110 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2907G>A (p.Gln969=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256616]|not provided [RCV000936221] Chr5:80854223 [GRCh38]
Chr5:80150042 [GRCh37]
Chr5:5q14.1		 likely benign
NM_000791.4(DHFR):c.-406CGCTGCAGC[1] microsatellite Constitutional megaloblastic anemia with severe neurologic disease [RCV001287743]|Hereditary cancer-predisposing syndrome [RCV002255567]|not provided [RCV000881733]|not specified [RCV002282395] Chr5:80654878..80654886 [GRCh38]
Chr5:79950697..79950705 [GRCh37]
Chr5:5q14.1		 benign|likely benign
NM_002439.5(MSH3):c.2529A>G (p.Gln843=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015844]|not provided [RCV000925878] Chr5:80787658 [GRCh38]
Chr5:80083477 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.3231T>C (p.Asp1077=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019342]|not provided [RCV000914745]|not specified [RCV004596371] Chr5:80873216 [GRCh38]
Chr5:80169035 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1028-6T>C single nucleotide variant not provided [RCV000936808]|not specified [RCV002268369] Chr5:80674977 [GRCh38]
Chr5:79970796 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2832T>C (p.Asn944=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016724]|not provided [RCV000945297] Chr5:80854148 [GRCh38]
Chr5:80149967 [GRCh37]
Chr5:5q14.1		 likely benign
NM_000791.4(DHFR):c.-384G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011754]|MSH3-related disorder [RCV003960525]|not provided [RCV000936734]|not specified [RCV004596378] Chr5:80654873 [GRCh38]
Chr5:79950692 [GRCh37]
Chr5:5q14.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002439.5(MSH3):c.1258A>G (p.Ser420Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010610]|not provided [RCV000927600]|not specified [RCV002268356] Chr5:80679011 [GRCh38]
Chr5:79974830 [GRCh37]
Chr5:5q14.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020634]|not provided [RCV000970446]|not specified [RCV003151247] Chr5:80656529 [GRCh38]
Chr5:79952348 [GRCh37]
Chr5:5q14.1		 benign|likely benign|uncertain significance
NM_002439.5(MSH3):c.1365C>T (p.Val455=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011057]|not provided [RCV000936956]|not specified [RCV002268370] Chr5:80725477 [GRCh38]
Chr5:80021296 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.169G>C (p.Ala57Pro) single nucleotide variant not provided [RCV000936960] Chr5:80654896 [GRCh38]
Chr5:79950715 [GRCh37]
Chr5:5q14.1		 benign
NM_002439.5(MSH3):c.915A>T (p.Gly305=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255591]|not provided [RCV000944070] Chr5:80672746 [GRCh38]
Chr5:79968565 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2543+9T>G single nucleotide variant not provided [RCV000944076] Chr5:80787681 [GRCh38]
Chr5:80083500 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2133A>G (p.Leu711=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416261]|MSH3-related disorder [RCV003953386]|not provided [RCV000982586] Chr5:80768883 [GRCh38]
Chr5:80064702 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2436-5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015529]|not provided [RCV000975773] Chr5:80787560 [GRCh38]
Chr5:80083379 [GRCh37]
Chr5:5q14.1		 likely benign|uncertain significance
NM_002439.5(MSH3):c.1188C>G (p.Ala396=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336927]|not provided [RCV000928742] Chr5:80678941 [GRCh38]
Chr5:79974760 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.975C>A (p.Leu325=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382135]|not provided [RCV000936979] Chr5:80672806 [GRCh38]
Chr5:79968625 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.238-10C>T single nucleotide variant not provided [RCV000975916] Chr5:80656401 [GRCh38]
Chr5:79952220 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.171C>G (p.Ala57=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400087]|not provided [RCV000944321] Chr5:80654898 [GRCh38]
Chr5:79950717 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1602T>C (p.Phe534=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400040]|not provided [RCV000928282] Chr5:80741497 [GRCh38]
Chr5:80037316 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.186G>A (p.Ala62=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409292]|not provided [RCV000976347] Chr5:80654913 [GRCh38]
Chr5:79950732 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1212T>C (p.Ser404=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004030039]|not provided [RCV000980822] Chr5:80678965 [GRCh38]
Chr5:79974784 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1569-9C>T single nucleotide variant not provided [RCV000928931] Chr5:80741455 [GRCh38]
Chr5:80037274 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.48A>T (p.Ser16=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336960]|not provided [RCV000937710] Chr5:80654775 [GRCh38]
Chr5:79950594 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2238A>G (p.Thr746=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427434]|not provided [RCV000983509] Chr5:80768988 [GRCh38]
Chr5:80064807 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2226A>G (p.Ala742=) single nucleotide variant not provided [RCV000976909] Chr5:80768976 [GRCh38]
Chr5:80064795 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1086T>C (p.Asp362=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427344]|not provided [RCV000938092] Chr5:80675041 [GRCh38]
Chr5:79970860 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.2943G>C (p.Thr981=) single nucleotide variant not provided [RCV000944613] Chr5:80854259 [GRCh38]
Chr5:80150078 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) single nucleotide variant Familial adenomatous polyposis 4 [RCV001254630]|Hereditary cancer-predisposing syndrome [RCV001012233]|not provided [RCV000966952]|not specified [RCV001002124] Chr5:80741466 [GRCh38]
Chr5:80037285 [GRCh37]
Chr5:5q14.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002439.5(MSH3):c.1065T>C (p.Asn355=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009824]|not provided [RCV000901407] Chr5:80675020 [GRCh38]
Chr5:79970839 [GRCh37]
Chr5:5q14.1		 likely benign
NM_000791.4(DHFR):c.-418GGCCGCTGC[1] microsatellite Constitutional megaloblastic anemia with severe neurologic disease [RCV001001678]|Hereditary cancer-predisposing syndrome [RCV002256636]|not provided [RCV000973643]|not specified [RCV001701277] Chr5:80654890..80654898 [GRCh38]
Chr5:79950709..79950717 [GRCh37]
Chr5:5q14.1		 pathogenic|benign|likely benign
NM_002439.5(MSH3):c.633A>G (p.Glu211=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354730]|not provided [RCV000900205] Chr5:80670150 [GRCh38]
Chr5:79965969 [GRCh37]
Chr5:5q14.1		 likely benign
NM_002439.5(MSH3):c.88T>C (p.Ser30Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375002]|not provided [RCV001071074] Chr5:80654815 [GRCh38]
Chr5:79950634 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1028-10T>G single nucleotide variant not provided [RCV001037411] Chr5:80674973 [GRCh38]
Chr5:79970792 [GRCh37]
Chr5:5q14.1		 likely benign|uncertain significance
NM_002439.5(MSH3):c.673T>G (p.Ser225Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372942]|not provided [RCV001037430] Chr5:80670190 [GRCh38]
Chr5:79966009 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.611G>T (p.Gly204Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355008]|not provided [RCV001043842] Chr5:80670128 [GRCh38]
Chr5:79965947 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1296G>T (p.Leu432Phe) single nucleotide variant Endometrial carcinoma [RCV003462546]|Hereditary cancer-predisposing syndrome [RCV002379543]|not provided [RCV001050519] Chr5:80679049 [GRCh38]
Chr5:79974868 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2542A>G (p.Arg848Gly) single nucleotide variant Endometrial carcinoma [RCV003462547]|Hereditary cancer-predisposing syndrome [RCV002451204]|not provided [RCV001050520] Chr5:80787671 [GRCh38]
Chr5:80083490 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.14A>G (p.Lys5Arg) single nucleotide variant not provided [RCV001071481] Chr5:80654741 [GRCh38]
Chr5:79950560 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2200C>T (p.Arg734Ter) single nucleotide variant Endometrial carcinoma [RCV003462624]|Familial adenomatous polyposis 4 [RCV003458618]|Hereditary cancer-predisposing syndrome [RCV002429746]|not provided [RCV001071793] Chr5:80768950 [GRCh38]
Chr5:80064769 [GRCh37]
Chr5:5q14.1		 pathogenic|likely pathogenic
NM_002439.5(MSH3):c.3245T>C (p.Ile1082Thr) single nucleotide variant Endometrial carcinoma [RCV004569979]|Hereditary cancer-predisposing syndrome [RCV001019419]|not provided [RCV001048552] Chr5:80873230 [GRCh38]
Chr5:80169049 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.226C>G (p.Pro76Ala) single nucleotide variant not provided [RCV001044294] Chr5:80654953 [GRCh38]
Chr5:79950772 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2819G>A (p.Gly940Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436568]|not provided [RCV001044296] Chr5:80854135 [GRCh38]
Chr5:80149954 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.22T>A (p.Ser8Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307837]|not provided [RCV001044427] Chr5:80654749 [GRCh38]
Chr5:79950568 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.97A>C (p.Ser33Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374904]|not provided [RCV001050847] Chr5:80654824 [GRCh38]
Chr5:79950643 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1653+1G>A single nucleotide variant Familial adenomatous polyposis 4 [RCV003316828]|not provided [RCV001072039] Chr5:80741549 [GRCh38]
Chr5:80037368 [GRCh37]
Chr5:5q14.1		 likely pathogenic
NM_002439.5(MSH3):c.97A>G (p.Ser33Gly) single nucleotide variant Endometrial carcinoma [RCV003462603]|Familial adenomatous polyposis 4 [RCV003230279]|Hereditary cancer-predisposing syndrome [RCV002379603]|not provided [RCV001067465] Chr5:80654824 [GRCh38]
Chr5:79950643 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1037C>T (p.Pro346Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391104]|not provided [RCV001038663] Chr5:80674992 [GRCh38]
Chr5:79970811 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.1640T>C (p.Ile547Thr) single nucleotide variant Endometrial carcinoma [RCV004570115]|Hereditary cancer-predisposing syndrome [RCV002391107]|not provided [RCV001038932] Chr5:80741535 [GRCh38]
Chr5:80037354 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2513C>T (p.Ala838Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307816]|not provided [RCV001039095] Chr5:80787642 [GRCh38]
Chr5:80083461 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.517A>C (p.Ser173Arg) single nucleotide variant not provided [RCV001039471] Chr5:80665301 [GRCh38]
Chr5:79961120 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.3184G>C (p.Gly1062Arg) single nucleotide variant Endometrial carcinoma [RCV004570193]|Hereditary cancer-predisposing syndrome [RCV002320289]|not provided [RCV001052458] Chr5:80873169 [GRCh38]
Chr5:80168988 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_002439.5(MSH3):c.2497T>G (p.Cys833Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429645]|not provided [