ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3615A>C (p.Lys1205Asn)

dbSNP: rs768156067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937694 SCV002179672 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-06-21 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. 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. ClinVar contains an entry for this variant (Variation ID: 1407005). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1205 of the BRIP1 protein (p.Lys1205Asn).
Ambry Genetics RCV003303365 SCV003998248 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-05 criteria provided, single submitter clinical testing The p.K1205N variant (also known as c.3615A>C), located in coding exon 19 of the BRIP1 gene, results from an A to C substitution at nucleotide position 3615. The lysine at codon 1205 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. 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.

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