ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2398_2423dup (p.Leu809fs)

dbSNP: rs1555282658
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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) RCV000661422 SCV000783699 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000502905 SCV000591805 likely pathogenic Hereditary breast ovarian cancer syndrome criteria provided, single submitter clinical testing
Ambry Genetics RCV003159613 SCV003855583 pathogenic Hereditary cancer-predisposing syndrome 2023-01-10 criteria provided, single submitter clinical testing The c.2398_2423dup26 pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of GGTAACAATTATGAATCTGATGTTGA at nucleotide positions 2398 to 2423, causing a translational frameshift with a predicted alternate stop codon (p.L809Vfs*10). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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