chr3:179198938:G>A Detail (hg38) (PIK3CA)

Information

Genome

Assembly Position
hg19 chr3:178,916,726-178,916,726 View the variant detail on this assembly version.
hg38 chr3:179,198,938-179,198,938

HGVS

Type Transcript Protein
RefSeq NM_006218.3:c.113G>A NP_006209.2:p.Arg38His
Ensemble ENST00000263967.4:c.113G>A ENST00000263967.4:p.Arg38His
ENST00000643187.1:c.113G>A ENST00000643187.1:p.Arg38His
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 171834 OMIM
HGNC 8975 HGNC
Ensembl ENSG00000121879 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM745 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic salivary gland neoplasms somatic MGS000044
(TMGS000097) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2024-04-07 criteria provided, single submitter Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His) AND Glioblastoma ClinVar Detail
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His) AND Neoplasm of uterine cervix ClinVar Detail
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His) AND Squamous cell lung carcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His) AND Neoplasm of the large intestine ClinVar Detail
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His) AND Gastric adenocarcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His) AND Overgrowth syndrome and/or cerebral malformations due ... ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs772110575 dbSNP
Genome
hg38
Position
chr3:179,198,938-179,198,938
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8618
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120342
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.309650828472188E-6
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