ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7575del (p.Ala2526fs)

dbSNP: rs869320797
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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) RCV000211007 SCV000301179 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Michigan Medical Genetics Laboratories, University of Michigan RCV000211007 SCV000267809 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509996 SCV000607836 pathogenic Hereditary cancer-predisposing syndrome 2020-06-22 criteria provided, single submitter clinical testing The c.7575delA pathogenic mutation, located in coding exon 14 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 7575, causing a translational frameshift with a predicted alternate stop codon (p.A2526Qfs*2). This alteration was identified in a cohort of Pakistani breast and/or ovarian cancer patients (Rashid MU et al. Hered Cancer Clin Pract. 2019 Sep;17:27). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000539513 SCV000635586 pathogenic Hereditary breast ovarian cancer syndrome 2024-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2526Glnfs*2) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a personal or family history of breast and/or ovarian cancer (PMID: 31528241). ClinVar contains an entry for this variant (Variation ID: 225751). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357856 SCV001553445 uncertain significance not provided no assertion criteria provided clinical testing

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