chr3:179230077:G>A Detail (hg38) (PIK3CA)

Information

Genome

Assembly Position
hg19 chr3:178,947,865-178,947,865 View the variant detail on this assembly version.
hg38 chr3:179,230,077-179,230,077

HGVS

Type Transcript Protein
RefSeq NM_006218.3:c.2740G>A NP_006209.2:p.Gly914Arg
Ensemble ENST00000263967.4:c.2740G>A ENST00000263967.4:p.Gly914Arg
ENST00000643187.1:c.2740G>A ENST00000643187.1:p.Gly914Arg
Summary

MGeND

Clinical significance
Variant entry
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 COSM3205661 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2017-09-01 criteria provided, multiple submitters, no conflicts Megalencephaly-capillary malformation-polymicrogyria syndrome de novo germline somatic Detail
Pathogenic 2022-07-05 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic no assertion criteria provided somatic Detail
Likely pathogenic 2020-12-20 criteria provided, single submitter Cowden syndrome 5 de novo Detail
Pathogenic 2022-02-12 reviewed by expert panel Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes germline Detail
Pathogenic 2023-08-11 criteria provided, single submitter Cowden syndrome germline Detail
Pathogenic 2019-12-16 criteria provided, single submitter Angioosteohypertrophic syndrome somatic Detail
Pathogenic no assertion criteria provided germline Detail
Pathogenic criteria provided, single submitter PIK3CA related overgrowth syndrome de novo Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Megalencephaly cutis marmorata telangiectatica congenita NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Megalencephaly-capillary malformation-polymicrogyria... ClinVar Detail
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND not provided ClinVar Detail
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Abnormal cardiovascular system morphology ClinVar Detail
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Cowden syndrome 5 ClinVar Detail
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Overgrowth syndrome and/or cerebral malformations du... ClinVar Detail
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Cowden syndrome ClinVar Detail
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Angioosteohypertrophic syndrome ClinVar Detail
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Abnormal cerebral morphology ClinVar Detail
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) 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
rs587776932 dbSNP
Genome
hg38
Position
chr3:179,230,077-179,230,077
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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