ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1107C>A (p.Tyr369Ter)

dbSNP: rs1489355776
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Praenatalmedizin und Genetik Nuernberg RCV001775202 SCV002011861 pathogenic Familial cancer of breast 2021-10-31 no assertion criteria provided clinical testing This variant was not listed in the databases (ClinVar, LOVD). GnomAD shows no entry for this variant (very rare or private variant). This variant in exon 8 of BRIP1 results in a premature stop-codon. Thus, we expect a loss of function. We therefore classify this variant as pathogenic.

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