ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2396A>G (p.Lys799Arg) (rs1555282656)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571372 SCV000665992 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769685 SCV000901098 uncertain significance Breast and/or ovarian cancer 2017-01-12 criteria provided, single submitter clinical testing
Invitae RCV000802457 SCV000942289 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-06 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 799 of the BRCA2 protein (p.Lys799Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with pancreatic cancer (PMID: 29802286). ClinVar contains an entry for this variant (Variation ID: 481510). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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