ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2370A>G (p.Lys790=) (rs372122365)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589636 SCV000699690 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV000805341 SCV000945294 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-12 criteria provided, single submitter clinical testing This sequence change affects codon 790 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 with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 496482). 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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