ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg)

dbSNP: rs1006002613
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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 RCV000636108 SCV000757540 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1015 of the BRIP1 protein (p.Lys1015Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 530314). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002448972 SCV002753517 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-16 criteria provided, single submitter clinical testing The p.K1015R variant (also known as c.3044A>G), located in coding exon 19 of the BRIP1 gene, results from an A to G substitution at nucleotide position 3044. The lysine at codon 1015 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321701 SCV004026874 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544835 SCV004790383 uncertain significance BRIP1-related disorder 2023-12-19 no assertion criteria provided clinical testing The BRIP1 c.3044A>G variant is predicted to result in the amino acid substitution p.Lys1015Arg. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. It is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/530314/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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