ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.290T>G (p.Ile97Arg)

dbSNP: rs878854009
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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 RCV000228278 SCV000284953 uncertain significance Familial cancer of breast 2023-08-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 97 of the BARD1 protein (p.Ile97Arg). This variant is not present in population databases (gnomAD no frequency). 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: 237833). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV000572068 SCV000665749 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-23 criteria provided, single submitter clinical testing The p.I97R variant (also known as c.290T>G), located in coding exon 3 of the BARD1 gene, results from a T to G substitution at nucleotide position 290. The isoleucine at codon 97 is replaced by arginine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002286725 SCV002577247 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18480049)
Baylor Genetics RCV000228278 SCV005054658 uncertain significance Familial cancer of breast 2023-11-08 criteria provided, single submitter clinical testing

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