ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)

gnomAD frequency: 0.00001  dbSNP: rs1395235750
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631215 SCV000752229 uncertain significance Cowden syndrome 2022-01-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 884 of the PIK3CA protein (p.Lys884Arg). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 526637). 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).
Eurofins Ntd Llc (ga) RCV000734952 SCV000863133 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002425 SCV001160362 uncertain significance not specified 2019-03-18 criteria provided, single submitter clinical testing The PIK3CA c.2651A>G; p.Lys884Arg variant (rs1395235750), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 526637). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The lysine at codon 884 is highly conserved but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Lys884Arg variant is uncertain at this time.
Fulgent Genetics, Fulgent Genetics RCV002483778 SCV002777216 uncertain significance Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer 2021-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533178 SCV003737665 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.2651A>G (p.K884R) alteration is located in exon 18 (coding exon 17) of the PIK3CA gene. This alteration results from a A to G substitution at nucleotide position 2651, causing the lysine (K) at amino acid position 884 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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