ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3211G>T (p.Glu1071Ter)

dbSNP: rs41293445
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246825 SCV001420212 pathogenic Hereditary breast ovarian cancer syndrome 2021-05-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 971124). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1071*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

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