ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2600A>C (p.Gln867Pro)

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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 RCV003802252 SCV004608842 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 867 of the BRIP1 protein (p.Gln867Pro). This variant is not present in population databases (gnomAD no frequency). 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. 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 RCV004366673 SCV004915758 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-23 criteria provided, single submitter clinical testing The c.2600A>C (p.Q867P) alteration is located in exon 19 (coding exon 18) of the BRIP1 gene. This alteration results from a A to C substitution at nucleotide position 2600, causing the glutamine (Q) at amino acid position 867 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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