chr3:178921567:A>G Detail (hg19) (PIK3CA)

Information

Genome

Assembly Position
hg19 chr3:178,921,567-178,921,567
hg38 chr3:179,203,779-179,203,779 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006218.3:c.1049A>G NP_006209.2:p.Asp350Gly
Ensemble ENST00000263967.4:c.1049A>G ENST00000263967.4:p.Asp350Gly
ENST00000643187.1:c.1049A>G ENST00000643187.1:p.Asp350Gly
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM271785 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2016-10-21 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-01-31 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Vemurafenib D Predictive Supports Resistance Somatic 2 24265155 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype PIK3CA and B... CIViC Evidence Detail
NM_006218.4(PIK3CA):c.1049A>G (p.Asp350Gly) AND Inborn genetic diseases ClinVar Detail
NM_006218.4(PIK3CA):c.1049A>G (p.Asp350Gly) AND not provided 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
rs1553821144 dbSNP
Genome
hg19
Position
chr3:178,921,567-178,921,567
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
D350G
Transcript 1 (CIViC Variant)
ENST00000263967.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1653
Genome browser