ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.166_169del (p.Lys56fs)

dbSNP: rs2154555258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380675 SCV001578803 pathogenic Hereditary breast ovarian cancer syndrome 2020-09-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BRCA1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys56Glyfs*12) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003462967 SCV004216875 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2022-11-30 criteria provided, single submitter clinical testing

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