U.S. flag

An official website of the United States government

NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile) AND Cowden syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 10, 2023
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:
RCV000529008.8

Allele description [Variation Report for NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile)]

NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile)

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.211G>A (p.Val71Ile)
HGVS:
  • NC_000003.12:g.179199036G>A
  • NG_012113.2:g.55514G>A
  • NM_006218.4:c.211G>AMANE SELECT
  • NP_006209.2:p.Val71Ile
  • LRG_310t1:c.211G>A
  • LRG_310:g.55514G>A
  • NC_000003.11:g.178916824G>A
  • NM_006218.2:c.211G>A
Protein change:
V71I
Links:
dbSNP: rs201269904
NCBI 1000 Genomes Browser:
rs201269904
Molecular consequence:
  • NM_006218.4:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cowden syndrome (CS)
Synonyms:
Cowden's disease; Cowden's syndrome; Cowden disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0016063; MedGen: C0018553; Orphanet: 201; OMIM: PS158350

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000626814Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 10, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000626814.7

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

Description

Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PIK3CA protein function. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 71 of the PIK3CA protein (p.Val71Ile). This variant is present in population databases (rs201269904, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. ClinVar contains an entry for this variant (Variation ID: 456536).

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

Last Updated: Nov 10, 2024