ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2719del (p.Glu907fs)

dbSNP: rs879255481
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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) RCV000239006 SCV000323507 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 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 RCV000239006 SCV000325445 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429179 SCV002741440 pathogenic Hereditary cancer-predisposing syndrome 2021-07-28 criteria provided, single submitter clinical testing The c.2719delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2719, causing a translational frameshift with a predicted alternate stop codon (p.E907Kfs*93). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). 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) RCV000239006 SCV000297473 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2014-08-07 no assertion criteria provided clinical testing

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