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NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 26, 2024
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:
RCV004955473.1

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:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005468931Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 26, 2024) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, et al.

JCI Insight. 2016 Jun 16;1(9). doi:pii: 87623. 10.1172/jci.insight.87623.

PubMed [citation]
PMID:
27631024
PMCID:
PMC5019182

Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.

De Graer C, Marangoni M, Romnée S, Delaunoy M, Zaytouni S, D'Haene N, Désir J, Donner C.

Eur J Med Genet. 2020 Apr;63(4):103775. doi: 10.1016/j.ejmg.2019.103775. Epub 2019 Sep 27.

PubMed [citation]
PMID:
31568861
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV005468931.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The c.1030G>A (p.V344M) alteration is located in exon 5 (coding exon 4) of the PIK3CA gene. This alteration results from a G to A substitution at nucleotide position 1030, causing the valine (V) at amino acid position 344 to be replaced by a methionine (M). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been determined to be the result of a mosaic or heterozygous mutation, de novo when parents were tested, in multiple individuals with megalencephaly, macrocephaly, hemihypertrophy, polydactyly, autism, speech delay, and/or dysmorphic facial features (Mirzaa, 2016; De Graer, 2020; Cooley Coleman, 2023; DECIPHER). This amino acid position is highly conserved in available vertebrate species. The in silico prediction for this alteration is inconclusive. Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Jun 22, 2025