RGD:12835108 Rat Genome Database

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Variant: RGD:12835108 -  Homo sapiens

RGD ID: 12835108
RS ID: rs397517201
ClinVar ID: CV362778
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3CA  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 178,936,095
GRCh38 3 179,218,307
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_310:g.74785A>T
NG_012113.2:g.74785A>T
NC_000003.12:g.179218307A>T
NC_000003.11:g.178936095A>T
More... 		05/31/2016 missense variant pathogenic|likely pathogenic all ages 1-9 / 1 000 000|1-9 / 100 000|20-30% her2-positive cases for metastatic carcinomas, and only 11% of the screen-detected breast carcinomas displayed her2/neu gene amplification. Adenocarcinoma of prostate; Adenocarcinoma of stomach; Brain neoplasm; Brain Neoplasms; Brain tumour; Breast Neoplasms; Breast tumor; Carcinoma, squamous cell of head and neck; Colorectal neoplasm; Colorectal Neoplasms; Cutaneous melanoma; Giant cell glioblastoma (histologic variant); Gliosarcoma (histologic variant); Head and neck squamous cell carcinoma; Malignant melanoma, somatic; MEDULLOBLASTOMA PREDISPOSITION SYNDROME; Medulloblastoma, somatic; Neoplasm of breast; Neoplasm of the breast; Squamous cell carcinoma, head and neck, somatic; Uterine cervical neoplasms; Uterine cervix neoplasm

Variant Details
Variant Transcripts
Gene Symbol:PIK3CA
Accession:NM_006218
Location:EXON
Amino Acid Prediction: Q to L (nonsynonymous)
Amino Acid Position: 546
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIFVSVTQEAERE
EFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPH
SRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSEQLK
LCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTATPYMNG
ETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAA
RLCLSICSVKGRKGAKEEHCPLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWF
SSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEITELEKDFLWSHRHYCVT
IPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGFAVRCLEKYLTDDKLSQYLIQLVQVLK
YEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLKHLNRQVEAMEKLINLTDILK
QEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECRIMSSAKRPLWLNWENPDIMSELLFQNNEII
FKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLSIGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQW
LKDKNKGEIYDAAIDLFTRSCAGYCVATFILGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDF
LIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFM
KQMNDAHHGGWTTKMDWIFHTIKQHALN*

Gene Symbol:PIK3CA
Accession:XM_006713658
Location:EXON
Amino Acid Prediction: Q to L (nonsynonymous)
Amino Acid Position: 546
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIFVSVTQEAERE
EFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPH
SRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSEQLK
LCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTATPYMNG
ETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAA
RLCLSICSVKGRKGAKEEHCPLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWF
SSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEITELEKDFLWSHRHYCVT
IPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGFAVRCLEKYLTDDKLSQYLIQLVQVLK
YEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLKHLNRQVEAMEKLINLTDILK
QEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECRIMSSAKRPLWLNWENPDIMSELLFQNNEII
FKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLSIGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQW
LKDKNKGEIYDAAIDLFTRSCAGYCVATFILGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDF
LIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFM
KQMNDAHHGGWTTKMDWIFHTIKQHALN*
Variant Samples
Additional References at PubMed
PMID:15254419   PMID:15647370   PMID:15805248   PMID:18676830   PMID:18725974   PMID:20453058   PMID:22162582   PMID:22162589   PMID:26619011  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000419085 CLINVAR
  RCV000419300 CLINVAR
  RCV000421119 CLINVAR
  RCV000423895 CLINVAR
  RCV000425569 CLINVAR
  RCV000429410 CLINVAR
  RCV000430443 CLINVAR
  RCV000431372 CLINVAR
  RCV000434648 CLINVAR
  RCV000435921 CLINVAR
  RCV000440512 CLINVAR
  RCV000440705 CLINVAR
  RCV000441426 CLINVAR
dbSNP (RS) rs397517201 CLINVAR
MedGen C0006118 CLINVAR
  C0007112 CLINVAR
  C0007873 CLINVAR
  C0009404 CLINVAR
  C0017636 CLINVAR
  C0025149 CLINVAR
  C0151779 CLINVAR
  C0153574 CLINVAR
  C0278701 CLINVAR
  C0279680 CLINVAR
  C0280630 CLINVAR
  C1168401 CLINVAR
  C1458155 CLINVAR
NCBI Gene PIK3CA CLINVAR
OMIM 155255 CLINVAR
  171834 CLINVAR
  275355 CLINVAR
SNOMED CT 123841004 CLINVAR
  126837005 CLINVAR
  126926005 CLINVAR
  126952004 CLINVAR
  63634009 CLINVAR
  716659002 CLINVAR
  93655004 CLINVAR