ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)

dbSNP: rs1060501740
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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 RCV000460420 SCV000547263 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2016-06-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This sequence change creates a premature translational stop signal at codon 90 (p.Cys90*) of the BRIP1 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV000460420 SCV000893465 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2018-10-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003335330 SCV004044164 pathogenic Familial cancer of breast 2023-05-30 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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