ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2218del (p.Gln740fs) (rs1555591365)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534157 SCV000633508 pathogenic Familial cancer of breast 2017-03-16 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 15 of the BRIP1 mRNA (c.2218delC), causing a frameshift at codon 740. This creates a premature translational stop signal (p.Gln740Argfs*19) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function 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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