ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7651A>G (p.Lys2551Glu)

dbSNP: rs398122587
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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 RCV000809930 SCV000950113 uncertain significance Hereditary breast ovarian cancer syndrome 2020-08-28 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 2551 of the BRCA2 protein (p.Lys2551Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid.
Ambry Genetics RCV002390628 SCV002673842 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-01 criteria provided, single submitter clinical testing The p.K2551E variant (also known as c.7651A>G), located in coding exon 15 of the BRCA2 gene, results from an A to G substitution at nucleotide position 7651. The lysine at codon 2551 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004569661 SCV005058353 uncertain significance Familial cancer of breast 2024-03-22 criteria provided, single submitter clinical testing

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