ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.2117A>G (p.Lys706Arg)

dbSNP: rs864622716
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205012 SCV000262036 uncertain significance Familial cancer of breast 2023-12-26 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 706 of the BARD1 protein (p.Lys706Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 220993). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV001014315 SCV001175009 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-24 criteria provided, single submitter clinical testing The p.K706R variant (also known as c.2117A>G), located in coding exon 11 of the BARD1 gene, results from an A to G substitution at nucleotide position 2117. The lysine at codon 706 is replaced by arginine, an amino acid with highly 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.
Color Diagnostics, LLC DBA Color Health RCV001014315 SCV004362619 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-05 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 706 of the BARD1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251320 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000205012 SCV005053315 uncertain significance Familial cancer of breast 2024-03-22 criteria provided, single submitter clinical testing

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