ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9145dup (p.Tyr3049fs)

dbSNP: rs2072912874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002375320 SCV002686102 pathogenic Hereditary cancer-predisposing syndrome 2021-08-19 criteria provided, single submitter clinical testing The c.9145dupT pathogenic mutation, located in coding exon 23 of the BRCA2 gene, results from a duplication of T at nucleotide position 9145, causing a translational frameshift with a predicted alternate stop codon (p.Y3049Lfs*23). This alteration was detected in 1/7400 high-risk Czech breast/ ovarian cancer families (Machackova E et al. Klin Onkol. 2019;32:51-71). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
CZECANCA consortium RCV001271065 SCV001451890 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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