ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)

gnomAD frequency: 0.00002  dbSNP: rs372760869
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012515 SCV001172975 likely benign Hereditary cancer-predisposing syndrome 2019-08-28 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.
Color Diagnostics, LLC DBA Color Health RCV001012515 SCV001341809 likely benign Hereditary cancer-predisposing syndrome 2018-11-26 criteria provided, single submitter clinical testing
Invitae RCV001432732 SCV001635511 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2022-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000464059 SCV001766123 likely benign not provided 2019-12-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001012515 SCV002531369 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-15 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000464059 SCV004220690 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000004 (1/251208 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BRIP1 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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