ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.259T>A (p.Cys87Ser) (rs1555617897)

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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 RCV000564994 SCV000666200 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000802648 SCV000942489 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 87 of the BRIP1 protein (p.Cys87Ser). The cysteine residue is weakly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 481628). Experimental studies have shown that this missense change does not affect protein function in vitro (PMID: 24573678). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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