ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys)

dbSNP: rs1724506239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303425 SCV001492671 uncertain significance Cowden syndrome 2023-05-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 361 of the PIK3CA protein (p.Tyr361Cys). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1006390). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002430108 SCV002728043 uncertain significance Inborn genetic diseases 2022-05-30 criteria provided, single submitter clinical testing The p.Y361C variant (also known as c.1082A>G), located in coding exon 5 of the PIK3CA gene, results from an A to G substitution at nucleotide position 1082. The tyrosine at codon 361 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029886 SCV005661900 uncertain significance Familial cancer of breast; Hemifacial myohyperplasia; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; CLAPO syndrome; CLOVES syndrome; Ovarian cancer; Cerebral cavernous malformation 4; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer 2023-12-28 criteria provided, single submitter clinical testing

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