ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.385A>G (p.Arg129Gly)

dbSNP: rs1553622711
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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 RCV000564736 SCV000668235 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-12 criteria provided, single submitter clinical testing The p.R129G variant (also known as c.385A>G), located in coding exon 4 of the BARD1 gene, results from an A to G substitution at nucleotide position 385. The arginine at codon 129 is replaced by glycine, an amino acid with dissimilar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001363223 SCV001559325 uncertain significance Familial cancer of breast 2023-06-16 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 missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine 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: 482804). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 129 of the BARD1 protein (p.Arg129Gly).
Baylor Genetics RCV001363223 SCV004217162 uncertain significance Familial cancer of breast 2023-09-13 criteria provided, single submitter clinical testing

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