ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5156del (p.Val1719fs)

dbSNP: rs1057517590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410980 SCV000489158 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-08-30 criteria provided, single submitter clinical testing
3DMed Clinical Laboratory Inc RCV000677800 SCV000803958 pathogenic Breast neoplasm 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090656 SCV005837710 pathogenic Hereditary breast ovarian cancer syndrome 2024-06-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1719Glyfs*11) 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 and/or ovarian cancer (PMID: 31825140). ClinVar contains an entry for this variant (Variation ID: 371936). For these reasons, this variant has been classified as Pathogenic.

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