ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1069A>T (p.Lys357Ter)

dbSNP: rs2053998767
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052426 SCV001216636 pathogenic Hereditary breast ovarian cancer syndrome 2023-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys357*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25480878). This variant is also known as 1188A>T. ClinVar contains an entry for this variant (Variation ID: 848630). For these reasons, this variant has been classified as Pathogenic.

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