ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2957C>G (p.Ser986Cys)

gnomAD frequency: 0.00001  dbSNP: rs182087528
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221048 SCV000275203 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-21 criteria provided, single submitter clinical testing The p.S986C variant (also known as c.2957C>G), located in coding exon 19 of the BRIP1 gene, results from a C to G substitution at nucleotide position 2957. The serine at codon 986 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000697466 SCV000826078 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-05-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 231375). This variant is present in population databases (rs182087528, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 986 of the BRIP1 protein (p.Ser986Cys).
Color Diagnostics, LLC DBA Color Health RCV000221048 SCV000909753 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-08 criteria provided, single submitter clinical testing This missense variant replaces serine with cysteine at codon 986 of the BRIP1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/250766 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV000221048 SCV002533662 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-02 criteria provided, single submitter curation

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