ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.182_183del (p.Cys61fs) (rs397508912)

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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) RCV000169282 SCV000299420 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Counsyl RCV000169282 SCV000220589 likely pathogenic Breast-ovarian cancer, familial 1 2014-08-12 criteria provided, single submitter literature only
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000169282 SCV000325151 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566720 SCV000661049 pathogenic Hereditary cancer-predisposing syndrome 2016-06-18 criteria provided, single submitter clinical testing The c.182_183delGT pathogenic mutation, located in coding exon 3 of the BRCA1 gene, results from a deletion of two nucleotides between positions 182 and 183, causing a translational frameshift with a predicted alternate stop codon. This mutation has been identified in one Italian high-risk breast cancer family (Papi L et al, Breast Cancer Res. Treat. 2009 Oct; 117(3):497-504). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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