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NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) AND PIK3CA related overgrowth syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 23, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003985084.1

Allele description [Variation Report for NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)]

NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)

Gene:
PIK3CA:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.32
Genomic location:
Preferred name:
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)
HGVS:
  • NC_000003.12:g.179203760G>A
  • NG_012113.2:g.60238G>A
  • NM_006218.4:c.1030G>AMANE SELECT
  • NP_006209.2:p.Val344Met
  • LRG_310t1:c.1030G>A
  • LRG_310:g.60238G>A
  • NC_000003.11:g.178921548G>A
  • NM_006218.2:c.1030G>A
  • NM_006218.3:c.1030G>A
Protein change:
V344M
Links:
dbSNP: rs1057519942
NCBI 1000 Genomes Browser:
rs1057519942
Molecular consequence:
  • NM_006218.4:c.1030G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PIK3CA related overgrowth syndrome
Synonyms:
PIK3CA related overgrowth spectrum; PIK3CA-associated segmental overgrowth; PIK3CA-Related Segmental Overgrowth
Identifiers:
MONDO: MONDO:1040002; MedGen: C4728213

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004801565Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Pathogenic
(May 23, 2021) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV004801565.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PIK3CA c.1030G>A p.(Val344Met) variant is a missense variant that has been reported in a heterozygous state in three individuals with features of megalencephaly-capillary malformation; the variant was maternally inherited in one individual and occurred de novo in the other two cases (Mirzaa et al. 2016; Yeung et al. 2017; De Graer et al. 2020). Meng et al. (2017) also reported the variant in a heterozygous state in a critically ill infant for whom no additional phenotype details were provided. This variant is not observed in version 2.1.1 or 3.1.2 of the Genome Aggregation Database. Based on the collective evidence the c.1030G>A p.(Val344Met) variant is classified as pathogenic for PIK3CA-related overgrowth spectrum.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 13, 2025