RGD:8658802 Rat Genome Database

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Variant: RGD:8658802 -  Homo sapiens

RGD ID: 8658802
RS ID: rs371387815
ClinVar ID: CV133152
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 89,720,741
GRCh38 10 87,960,984
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_001304717.5:c.1411C>G
LRG_311t1:c.892C>G
LRG_311:g.102546C>G
NG_007466.2:g.102546C>G
More... 		08/04/2023 missense variant likely benign|uncertain significance 1 in 200,000 AllHighlyPenetrant; B-K MOLE SYNDROME; Bannayan-Riley-Ruvalcaba syndrome; Bannayan-Zonana syndrome; Breast cancer, familial; Cancer predisposition; Carcinoma, squamous cell of head and neck; Cowden syndrome 1; Cutaneous malignant melanoma 1; DYSPLASTIC NEVUS SYNDROME, HEREDITARY; Endometrial carcinoma, somatic; FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME; Familial meningioma; Glioma susceptibility 2; Head and neck squamous cell carcinoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Macrocephaly multiple lipomas and hemangiomata; Macrocephaly pseudopapilledema and multiple hemangiomas; Macrocephaly-autism syndrome; Macrocephaly/autism syndrome; Malignant tumor of prostate; MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; MELANOMA, MALIGNANT; MELANOMA, MALIGNANT, SOMATIC; Meningioma, familial, susceptibility to; Neoplastic Syndromes, Hereditary; none provided; Prostate cancer; PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders; Riley-Smith syndrome; Ruvalcaba -Myhre-Smith syndrome; Squamous cell carcinoma of the head and neck; Squamous cell carcinoma, head and neck, somatic; THYROID CANCER, NONMEDULLARY, 2; THYROID CANCER, NONMEDULLARY, 2, SUSCEPTIBILITY TO; Thyroid carcinoma, follicular, somatic; Tumor predisposition; VACTERL association with hydrocephalus; VACTERL with hydrocephalus; VACTERL-H
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PTEN
Accession:NM_001304718
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMYFEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNT
FFIPGPEETSEKVENGSLCDEEIDSICSIERADNDKEYLVLTLTKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNP
EASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQITKV*

Gene Symbol:PTEN
Accession:NM_001304717
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 471

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LERGGEAAAAAAAAAAAPGRGSESPVTISRAGNAGELVSPLLLPPTRRRRRLAHPGTRAGFKPPVRRRRTPRGPGSGGRR
RRQPFGGLFVFSPFRCRRCQASGC*GEAGPVAATIQQPPQQPLPGCGPEPSGGRARGISYRQVQSHFHPAEEAPPPAASA
ISLLLFLQPQAPRHDSHHQRDR*QKQKEISRGWIRLRLDLYLSKHYCYGISCRKT*RRIQEQY**CSKVFGFKA*KPLQD
IQSLC*KTL*HRQI*LQSCTISF*RP*PTTARTYQTLL*RS*PMAK*R*QSCCSNSL*SWKGTNWCNDMCIFITSGQIFK
GTRGPRFLWGSKDQRQKGSNYSQSEALCVLL*LPVKESSGL*TSGTVVSQDDV*NYSNVQWRNLQSSVCGLPAKGEDIFL
QFRTHTTGRQVHVL*VPSAVTCVW*YQSRVLPQTEQDAKKGQNVSLLGKYILHTRTRGNLRKSRKWKSM**RNR*HLQYR
ACR**QGISSTYFNKK*S*QSK*RQSQPILFSKF*GEAVLHKNSRGAVKSRG*QFNFCNTRC**Q*T*SL*IF*HH*L*S
RE*TF**RSAYTNYKSL

Gene Symbol:PTEN
Accession:NM_000314
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAK
FNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRT
RDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMY
FEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDEEIDSICSIERADNDKEYLVLTL
TKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQI
TKV*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:24055113   PMID:25741868   PMID:25980754   PMID:28492532   PMID:29706350   PMID:29785012   PMID:32350270   PMID:32832836   PMID:32885271  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000115590 CLINVAR
  RCV000148765 CLINVAR
  RCV000199677 CLINVAR
  RCV000212885 CLINVAR
  RCV000515394 CLINVAR
  RCV000656956 CLINVAR
  RCV001354793 CLINVAR
  RCV003447497 CLINVAR
  RCV003467048 CLINVAR
dbSNP (RS) rs371387815 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C0476089 CLINVAR
  C1959582 CLINVAR
  C2751642 CLINVAR
  C3661900 CLINVAR
  C5679802 CLINVAR
  CN072330 CLINVAR
  CN169374 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 114480 CLINVAR
  153480 CLINVAR
  155600 CLINVAR
  158350 CLINVAR
  176807 CLINVAR
  188470 CLINVAR
  275355 CLINVAR
  276950 CLINVAR
  601728 CLINVAR
  605309 CLINVAR
  607174 CLINVAR
  608089 CLINVAR
  613028 CLINVAR
SNOMED CT 254843006 CLINVAR
  254878006 CLINVAR
  699346009 CLINVAR