ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2726del (p.Asn909fs)

dbSNP: rs80357614
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Total submissions: 3
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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) RCV000111926 SCV000299820 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.
Ambry Genetics RCV002453362 SCV002738683 pathogenic Hereditary cancer-predisposing syndrome 2021-01-15 criteria provided, single submitter clinical testing The c.2726delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2726, causing a translational frameshift with a predicted alternate stop codon (p.N909Ifs*91). This mutation has been detected in two Dutch breast and/or ovarian cancer families (van der Hout AH et al. Hum Mutat. 2006 Jul;27(7):654-66). 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) RCV000111926 SCV000144527 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2001-10-29 no assertion criteria provided clinical testing

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