ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2487del (p.Phe829fs)

dbSNP: rs80357658
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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) RCV000111879 SCV000299778 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111879 SCV000325371 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004018957 SCV005025828 pathogenic Hereditary cancer-predisposing syndrome 2023-12-15 criteria provided, single submitter clinical testing The c.2487delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2487, causing a translational frameshift with a predicted alternate stop codon (p.F829Lfs*17). This variant has been identified amongst multiple cohorts of individuals with personal and/or family history of HBOC-associated cancers (Marroni F et al. Eur J Hum Genet, 2004 Nov;12:899-906; Finkelman BS et al. J Clin Oncol, 2012 Apr;30:1321-8; Cardoso FC et al. Hum Genomics, 2018 Aug;12:39). Of note, this alteration is also designated as 2606delT 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111879 SCV000144458 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496904 SCV000587225 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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