ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5142T>G (p.Tyr1714Ter)

dbSNP: rs2072521352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001281567 SCV001468877 likely pathogenic Familial cancer of breast 2019-08-02 criteria provided, single submitter clinical testing The c.5142T>G (p.Tyr1714Ter) variant identified in the BRCA2 gene leads to the premature termination of the protein at amino acid 1714/3419 (coding exon 11/27). This variant is absent from gnomAD and ExAC, suggesting it is not a common benign variant in the populations represented in these databases. Although it is absent from ClinVar, many pathogenic nonsense variants have been reported downstream (https://www.ncbi.nlm.nih.gov/clinvar). To our current knowledge, this variant has not been reported in any affected individuals in the literature. Given its deleterious nature and absence in population databases, the c.5142T>G (p.Tyr1714Ter) variant in the BRCA2 gene is reported here as Likely Pathogenic.

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