ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1839_1841delinsAGT (p.Lys614Val)

dbSNP: rs1597873873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV003158004 SCV003848033 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Invitae RCV003645333 SCV004537388 uncertain significance Hereditary breast ovarian cancer syndrome 2021-09-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 642621). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant, c.1839_1841delinsAGT, is a complex sequence change that results in the deletion of 1 and insertion of 1 amino acid(s) in the BRCA1 protein (p.Lys614Val).

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