ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1759_1762del (p.Ile587fs)

dbSNP: rs879255479
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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) RCV000239171 SCV000783481 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV001381518 SCV001579953 pathogenic Hereditary breast ovarian cancer syndrome 2022-10-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 252868). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25428789). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile587Alafs*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).
Ambry Genetics RCV002401948 SCV002714350 pathogenic Hereditary cancer-predisposing syndrome 2020-03-27 criteria provided, single submitter clinical testing The c.1759_1762delATAA pathogenic mutation (also known as p.I587Afs*4) is located in coding exon 9 of the BRCA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 1759 to 1762, causing a translational frameshift with a predicted alternate stop codon. This mutation (designated 1759delATAA) has been identified in an African American woman diagnosed with early-onset breast cancer (Churpek JE et al. Breast Cancer Res. Treat., 2015 Jan;149:31-9). 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) RCV000239171 SCV000297471 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2009-11-13 no assertion criteria provided clinical testing

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