ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val)

gnomAD frequency: 0.00001  dbSNP: rs28904918
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803884 SCV000943771 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 857 of the BRIP1 protein (p.Ile857Val). This variant is present in population databases (rs28904918, gnomAD 0.003%). 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: 649031). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV001015978 SCV001176877 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-15 criteria provided, single submitter clinical testing The p.I857V variant (also known as c.2569A>G), located in coding exon 17 of the BRIP1 gene, results from an A to G substitution at nucleotide position 2569. The isoleucine at codon 857 is replaced by valine, an amino acid with highly similar properties. In one study, this alteration was identified in 1/1212 breast cancer cases and 0/2081 controls (Seal S et al. Nat. Genet. 2006 Nov;38:1239-41). 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.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030532 SCV001193528 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268294 SCV002551164 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV003461148 SCV004217049 uncertain significance Familial cancer of breast 2023-07-19 criteria provided, single submitter clinical testing

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