rs3092842 Rat Genome Database

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Variant: rs3092842 -  Homo sapiens

RGD ID: 8690197
RS ID: rs3092842
ClinVar ID: CV140147
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATM  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 108,155,205
GRCh38 11 108,284,478
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Prevalence
Trait Synonyms
LRG_135t1:c.3993+5G>T
LRG_135:g.66647G>T
NG_009830.1:g.66647G>T
NC_000011.10:g.108284478G>T
More...
02/01/2024 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters childhood|infancy 1-5 / 10 000 AllHighlyPenetrant; AT, COMPLEMENTATION GROUP C; Ataxia-telangiectasia; ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A; Ataxia-telangiectasia, complementation group D; Ataxia-telangiectasia, complementation group E; ATAXIA-TELANGIECTASIA, FRESNO VARIANT; Breast and ovarian cancer; Breast cancer, familial; Cancer breast; Cancer predisposition; Cerebello-oculocutaneous telangiectasia; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); Hereditary breast and/or ovarian cancer syndrome; Hereditary breast cancer; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Immunodeficiency with ataxia telangiectasia; Louis-Bar syndrome; Malignant breast neoplasm; Neoplastic Syndromes, Hereditary; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Tumor predisposition
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV140147Humanataxia telangiectasia  IAGP 8554872ClinVar Annotator: match by term: Ataxia-telangiectasia syndromeClinVarPMID:11996792 more ...
CV140147Humanbreast cancer  IAGP 8554872ClinVar Annotator: match by term: Malignant tumor of breastClinVarPMID:11996792 more ...
CV140147HumanBreast Cancer, Familial  IAGP 8554872ClinVar Annotator: match by term: Familial cancer of breastClinVarPMID:11996792 more ...
CV140147Humanhereditary breast ovarian cancer syndrome  IAGP 8554872ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndromeClinVarPMID:11996792 more ...
CV140147HumanHereditary Neoplastic Syndromes  IAGP 8554872ClinVar Annotator: match by term: Hereditary cancer-predisposing syndromeClinVarPMID:11996792 more ...

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV140147HumanBreast carcinoma  IAGP 8554872ClinVar Annotator: match by term: Cancer breastClinVarPMID:11996792 more ...

Gene Symbol:ATM
Accession:XM_011542844
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351836
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426976
Location:INTRON

Gene Symbol:ATM
Accession:NM_000051
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426978
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351835
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542843
Location:INTRON

Gene Symbol:ATM
Accession:NM_001351834
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718845
Location:INTRON

Gene Symbol:ATM
Accession:XM_006718843
Location:INTRON

Gene Symbol:ATM
Accession:XM_017017790
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426977
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542842
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426979
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426975
Location:INTRON

Gene Symbol:ATM
Accession:XM_011542840
Location:INTRON

Gene Symbol:ATM
Accession:XM_047426981
Location:INTRON

Gene Symbol:ATM
Accession:XM_005271562
Location:INTRON

.
PMID:11996792   PMID:19781682   PMID:25085752   PMID:25741868   PMID:25980754   PMID:26467025   PMID:26976419   PMID:28492532   PMID:30306255   PMID:35716007  



1 to 25 of 25 rows
Database
Acc Id
Source(s)
ClinVar RCV000129022 CLINVAR
  RCV000212007 CLINVAR
  RCV001082999 CLINVAR
  RCV001356113 CLINVAR
  RCV001705901 CLINVAR
  RCV002225398 CLINVAR
  RCV003315837 CLINVAR
  RCV003492558 CLINVAR
dbSNP (RS) rs3092842 CLINVAR
MedGen C0004135 CLINVAR
  C0006142 CLINVAR
  C0027672 CLINVAR
  C0346153 CLINVAR
  C0677776 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN221562 CLINVAR
NCBI Gene ATM CLINVAR
OMIM 114480 CLINVAR
  208900 CLINVAR
  607585 CLINVAR
SNOMED CT 254837009 CLINVAR
  254843006 CLINVAR
  68504005 CLINVAR
  699346009 CLINVAR
1 to 25 of 25 rows