ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8956dup (p.Ile2986fs)

dbSNP: rs397508024
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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) RCV000661725 SCV000784032 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Color Diagnostics, LLC DBA Color Health RCV000771469 SCV000903912 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant is located in the BRCA2 protein. Splice site prediction tools suggest that this variant may not impact RNA splicing. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852962 SCV002138010 pathogenic Hereditary breast ovarian cancer syndrome 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 52713). This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 16683254, 29681614). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile2986Asnfs*32) 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).
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577546 SCV000678834 not provided Familial cancer of breast no assertion provided literature only

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