ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3344C>G (p.Ser1115Cys)

dbSNP: rs1419933310
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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 RCV000562325 SCV000668973 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-14 criteria provided, single submitter clinical testing The p.S1115C variant (also known as c.3344C>G), located in coding exon 19 of the BRIP1 gene, results from a C to G substitution at nucleotide position 3344. The serine at codon 1115 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is 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 RCV000636178 SCV000757610 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2017-11-21 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRIP1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 1115 of the BRIP1 protein (p.Ser1115Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine.
Color Diagnostics, LLC DBA Color Health RCV000562325 SCV004362873 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-06 criteria provided, single submitter clinical testing This missense variant replaces serine with cysteine at codon 1115 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 not been identified 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.
Leiden Open Variation Database RCV001194753 SCV001364532 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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