ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1996A>G (p.Asn666Asp)

dbSNP: rs765816425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001876263 SCV002225807 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-10-02 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 929547). This missense change has been observed in individual(s) with prostate cancer (PMID: 31214711). This variant is present in population databases (rs765816425, ExAC 0.01%). This sequence change replaces asparagine with aspartic acid at codon 666 of the BRIP1 protein (p.Asn666Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid.
Ambry Genetics RCV002418656 SCV002718608 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-24 criteria provided, single submitter clinical testing The p.N666D variant (also known as c.1996A>G), located in coding exon 13 of the BRIP1 gene, results from an A to G substitution at nucleotide position 1996. The asparagine at codon 666 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is poorly 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.
Leiden Open Variation Database RCV001194764 SCV001364547 uncertain significance not provided 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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