RGD:8599485 Rat Genome Database

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Variant: RGD:8599485 -  Homo sapiens

RGD ID: 8599485
RS ID: rs121913286
ClinVar ID: CV28693
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3CA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 178,936,094
GRCh38 3 179,218,306
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
NG_012113.2:g.74784C>G
NC_000003.12:g.179218306C>G
NC_000003.11:g.178936094C>G
NP_006209.2:p.Gln546Glu
More... 		05/31/2016 missense|missense variant pathogenic|likely pathogenic|other 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 adenocarcinoma, somatic; Breast cancer, somatic; 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 E (nonsynonymous)
Amino Acid Position: 546
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIFVSVTQEAERE
EFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPH
SRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSEQLK
LCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTATPYMNG
ETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAA
RLCLSICSVKGRKGAKEEHCPLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWF
SSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEITEEEKDFLWSHRHYCVT
IPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGFAVRCLEKYLTDDKLSQYLIQLVQVLK
YEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLKHLNRQVEAMEKLINLTDILK
QEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECRIMSSAKRPLWLNWENPDIMSELLFQNNEII
FKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLSIGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQW
LKDKNKGEIYDAAIDLFTRSCAGYCVATFILGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDF
LIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFM
KQMNDAHHGGWTTKMDWIFHTIKQHALN*

Gene Symbol:PIK3CA
Accession:XM_006713658
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 546
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIFVSVTQEAERE
EFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPH
SRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSEQLK
LCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTATPYMNG
ETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAA
RLCLSICSVKGRKGAKEEHCPLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWF
SSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEITEEEKDFLWSHRHYCVT
IPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGFAVRCLEKYLTDDKLSQYLIQLVQVLK
YEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLKHLNRQVEAMEKLINLTDILK
QEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECRIMSSAKRPLWLNWENPDIMSELLFQNNEII
FKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLSIGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQW
LKDKNKGEIYDAAIDLFTRSCAGYCVATFILGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDF
LIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFM
KQMNDAHHGGWTTKMDWIFHTIKQHALN*
Variant Samples
Additional References at PubMed
PMID:15016963   PMID:15254419   PMID:15520168   PMID:15647370   PMID:15805248   PMID:18676830   PMID:18725974   PMID:19366826   PMID:19903786   PMID:20453058   PMID:20619739   PMID:22162582  
PMID:22162589   PMID:26619011  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014630 CLINVAR
  RCV000420029 CLINVAR
  RCV000421157 CLINVAR
  RCV000421383 CLINVAR
  RCV000422486 CLINVAR
  RCV000427915 CLINVAR
  RCV000431151 CLINVAR
  RCV000432516 CLINVAR
  RCV000432772 CLINVAR
  RCV000437696 CLINVAR
  RCV000439013 CLINVAR
  RCV000441411 CLINVAR
  RCV000441934 CLINVAR
  RCV000442905 CLINVAR
dbSNP (RS) rs121913286 CLINVAR
MedGen C0006118 CLINVAR
  C0007112 CLINVAR
  C0007873 CLINVAR
  C0009404 CLINVAR
  C0017636 CLINVAR
  C0025149 CLINVAR
  C0151779 CLINVAR
  C0153574 CLINVAR
  C0278701 CLINVAR
  C0279680 CLINVAR
  C0280630 CLINVAR
  C0858252 CLINVAR
  C1168401 CLINVAR
  C1458155 CLINVAR
NCBI Gene PIK3CA CLINVAR
OMIM 155255 CLINVAR
  171834 CLINVAR
  275355 CLINVAR
OMIM Allele 171834.0006 CLINVAR
SNOMED CT 123841004 CLINVAR
  126837005 CLINVAR
  126926005 CLINVAR
  126952004 CLINVAR
  63634009 CLINVAR
  716659002 CLINVAR
  93655004 CLINVAR