ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7435+17delT (rs1472572621)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772489 SCV000905668 likely benign Hereditary cancer-predisposing syndrome 2018-10-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587964 SCV000695063 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7435+17delT variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this substitution along with 5/5 splice prediction tools predicting the variant not to have an impact on normal splicing. This variant is absent in 116072 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Due to the variant being located outside of the canonical splice sites, it is classified as a VUS-possibly benign until additional information becomes available.

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