ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2176del (p.Leu726fs)

dbSNP: rs80357668
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Total submissions: 6
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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) RCV000077508 SCV000299710 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237427 SCV002009409 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426602 SCV002727280 pathogenic Hereditary cancer-predisposing syndrome 2022-10-31 criteria provided, single submitter clinical testing The c.2176delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2176, causing a translational frameshift with a predicted alternate stop codon (p.L726Ffs*10). This alteration was identified in female with a personal history of multiple early-onset breast cancer diagnoses (Foley SB et al. EBioMedicine, 2015 Jan;2:74-81). Of note, this alteration is also designated as 2295delC in the published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Sharing Clinical Reports Project (SCRP) RCV000077508 SCV000109308 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2008-08-12 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077508 SCV000144319 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 1998-07-10 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496712 SCV000587193 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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