chr3:178922364:G>A Detail (hg19) (PIK3CA)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:178,922,364-178,922,364
hg38	chr3:179,204,576-179,204,576 View the variant detail on this assembly version.

HGVS

PIK3CA

Type	Transcript	Protein
RefSeq	NM_006218.3:c.1133G>A	NP_006209.2:p.Cys378Tyr
Ensemble	ENST00000263967.4:c.1133G>A	ENST00000263967.4:p.Cys378Tyr
	ENST00000643187.1:c.1133G>A	ENST00000643187.1:p.Cys378Tyr

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

PIK3CA

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	COSM1041479	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-02-23	criteria provided, multiple submitters, no conflicts	Megalencephaly-capillary malformation-polymicrogyria syndrome	somatic unknown	Detail
Pathogenic		criteria provided, single submitter	PIK3CA related overgrowth syndrome	de novo somatic	Detail
Pathogenic	2023-08-30	criteria provided, single submitter	Cowden syndrome	germline	Detail
Pathogenic	2022-08-30	criteria provided, single submitter	PIK3CA-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Megalencephaly cutis marmorata telangiectatica congenita	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) AND Megalencephaly-capillary malformation-polymicrogyria...	ClinVar	Detail
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) AND PIK3CA related overgrowth syndrome	ClinVar	Detail
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) AND Cowden syndrome	ClinVar	Detail
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) AND PIK3CA-related disorder	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: rs397514565 dbSNP
Genome: hg19
Position: chr3:178,922,364-178,922,364
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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