ClinVar Miner

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

dbSNP: rs397508912
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Total submissions: 5
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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, susceptibility to, 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, susceptibility to, 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, susceptibility to, 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.
Invitae RCV003529955 SCV004296857 pathogenic Hereditary breast ovarian cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with hereditary breast or ovarian cancer (PMID: 18821011). This sequence change creates a premature translational stop signal (p.Cys61Serfs*4) 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). ClinVar contains an entry for this variant (Variation ID: 54365). For these reasons, this variant has been classified as Pathogenic.

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