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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 6, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000852337.2

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]
Observations:
1

Condition(s)

Name:
Hypertelorism
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Megalencephaly, autosomal dominant
Identifiers:
MONDO: MONDO:0007961; MedGen: C3805727; OMIM: 155350
Name:
Diaphragmatic eventration
Synonyms:
Diaphragmatic eventration (disease)
Identifiers:
MONDO: MONDO:0006726; MeSH: D003965; MedGen: C0011981; Human Phenotype Ontology: HP:0009110
Name:
Abnormality of the hairline
Identifiers:
MedGen: C4024297; Human Phenotype Ontology: HP:0009553
Name:
Intestinal duplication
Identifiers:
MedGen: C0266166; Human Phenotype Ontology: HP:0100668

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000920642Center of Human Genetics, Erasme Hospital
no assertion criteria provided
Pathogenic
(Jun 6, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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

Details of each submission

From Center of Human Genetics, Erasme Hospital, SCV000920642.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The c.1030G>A p.(Val344Met) has been identified by our team in a fetus showing megalencephaly, left diaphragmatic eventration, facial dysmorphism (hypertelorism, abnormal hair line implantation) and duplication of distal portion of the small bowel. The variant arose as a de novo event and it was present in several fetal tissues. In addition, the c.1030G>A p.(Val344Met) variant has been previously reported at de novo constitutional state in two patients presenting megalencephaly (Mirzaa et al., 2016; Yeung et al., 2017). Moreover, this variant is listed in the Catalogue of Somatic Mutations in Cancer (COSMIC accession: COSM253279, COSM253280) and found in several types of carcinoma, glioma and angiosarcoma. Moreover, this variant is not present in frequency databases (gnomAD, Exome Variant Server) and several prediction tools (PolyPhen2, SIFT, LRT, MutationTaster, etc) agree to predict this change as deleterious. Overall, the c.1030G>A p.(Val344Met) variant meets our criteria to be classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 13, 2025