ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.505A>G (p.Ile169Val)

dbSNP: rs765494437
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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 RCV001326878 SCV001517931 uncertain significance Familial cancer of breast 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 169 of the BARD1 protein (p.Ile169Val). This variant is present in population databases (rs765494437, gnomAD 0.0009%). 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: 1026432). 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 valine 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 RCV002341679 SCV002642736 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-09 criteria provided, single submitter clinical testing The p.I169V variant (also known as c.505A>G), located in coding exon 4 of the BARD1 gene, results from an A to G substitution at nucleotide position 505. The isoleucine at codon 169 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492247 SCV004240105 uncertain significance Breast and/or ovarian cancer 2023-01-04 criteria provided, single submitter clinical testing

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