ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4560T>C (p.Thr1520=) (rs1555283847)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590362 SCV000694781 uncertain significance not provided 2016-06-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4560T>C (p.Thr1520Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SRp40. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 120342 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. Taken together, this variant is classified as VUS-possibly benign.

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