ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.587A>C (p.Asn196Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002353504 SCV002652801 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-11 criteria provided, single submitter clinical testing The p.N196T variant (also known as c.587A>C), located in coding exon 5 of the BRIP1 gene, results from an A to C substitution at nucleotide position 587. The asparagine at codon 196 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003776175 SCV004610848 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-11-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 196 of the BRIP1 protein (p.Asn196Thr). 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: 1750237). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRIP1 protein function with a negative predictive value of 80%. 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.

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