ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.140A>G (p.Tyr47Cys)

dbSNP: rs776528342
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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 RCV001011435 SCV001171756 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-10 criteria provided, single submitter clinical testing The p.Y47C variant (also known as c.140A>G), located in coding exon 2 of the RAD51D gene, results from an A to G substitution at nucleotide position 140. The tyrosine at codon 47 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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 RCV001860665 SCV002185210 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2024-11-20 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 47 of the RAD51D protein (p.Tyr47Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 819144). 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.
GeneDx RCV003332280 SCV004040117 uncertain significance not provided 2023-03-29 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: 21111057)

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