ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2138T>G (p.Leu713Ter) (rs878855145)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229169 SCV000291004 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2016-03-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 713 (p.Leu713*) of the BRIP1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic.

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