ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4211del (p.Leu1404fs)

dbSNP: rs1555584251
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586249 SCV000699121 likely pathogenic Hereditary breast ovarian cancer syndrome 2016-04-11 criteria provided, single submitter clinical testing Variant summary: The c.4211delT variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein, which is a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (c.4222C>T, p.Gln1408X; c.4243delG, p.Glu1415fs). The variant is absent from the large, broad ExAC control population. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Therefore, this variant has been classified as Likely Pathogenic.

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