ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5186del (p.Leu1729fs)

dbSNP: rs398122692
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077157 SCV000300221 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Counsyl RCV000077157 SCV000786464 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV000794193 SCV000933587 pathogenic Hereditary breast ovarian cancer syndrome 2022-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1729Argfs*36) 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 BRCA1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91640). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077157 SCV000108954 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2009-04-17 no assertion criteria provided clinical testing

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