ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2121T>G (p.Arg707=)

dbSNP: rs1481107855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815556 SCV000956017 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-08-13 criteria provided, single submitter clinical testing This sequence change affects codon 707 of the BRIP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRIP1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Color Diagnostics, LLC DBA Color Health RCV001525410 SCV001735500 likely benign Hereditary cancer-predisposing syndrome 2020-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001525410 SCV002726451 likely benign Hereditary cancer-predisposing syndrome 2020-08-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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