ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1912A>G (p.Asn638Asp)

dbSNP: rs2077594670
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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 RCV001036969 SCV001200360 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2019-04-09 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRIP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with aspartic acid at codon 638 of the BRIP1 protein (p.Asn638Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid.
Ambry Genetics RCV004601329 SCV005101027 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-22 criteria provided, single submitter clinical testing The p.N638D variant (also known as c.1912A>G), located in coding exon 12 of the BRIP1 gene, results from an A to G substitution at nucleotide position 1912. The asparagine at codon 638 is replaced by aspartic acid, an amino acid with highly similar properties. This variant was detected in a cohort of 151 patients diagnosed with epithelial breast cancer in the southernmost region of Thailand (Sukpan P et al. J Pers Med, 2023 Nov;13). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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