chr3:178936095:A>G Detail (hg19) (PIK3CA)

Information

Genome

Assembly Position
hg19 chr3:178,936,095-178,936,095
hg38 chr3:179,218,307-179,218,307 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006218.3:c.1637A>G NP_006209.2:p.Gln546Arg
Ensemble ENST00000263967.4:c.1637A>G ENST00000263967.4:p.Gln546Arg
ENST00000643187.1:c.1637A>G ENST00000643187.1:p.Gln546Arg
Summary

MGeND

Clinical significance not provided
Variant entry 12
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM12459 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided duodenum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided Neoplasm of ovary (disorder)_Neuroendocrine carcinoma, grade 3 (morphologic abnormality) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Malignant tumor of salivary gland (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-08-10 criteria provided, single submitter Neoplasm of ovary somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine 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 somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided medulloblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Pathogenic no assertion criteria provided somatic Detail
Pathogenic 2021-02-04 criteria provided, single submitter not provided somatic Detail
Pathogenic 2023-08-09 criteria provided, single submitter PIK3CA related overgrowth syndrome somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.129 ovarian neoplasm NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Neoplasm of ovary ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Neoplasm of uterine cervix ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Neoplasm of the large intestine ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Uterine carcinosarcoma ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Glioblastoma ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Prostate adenocarcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Gastric adenocarcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Breast neoplasm ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Malignant melanoma of skin ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Medulloblastoma ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Neoplasm of brain ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Abnormal cardiovascular system morphology ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND not provided ClinVar Detail
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND PIK3CA related overgrowth syndrome ClinVar Detail
NA DisGeNET 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
rs397517201 dbSNP
Genome
hg19
Position
chr3:178,936,095-178,936,095
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser