ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4515C>A (p.Thr1505=) (rs1555283817)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587066 SCV000694776 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4515C>A (p.Thr1505Thr) 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 does not affect any ESE site. This variant is absent in 120188 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. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000548480 SCV000635374 likely benign Hereditary breast and ovarian cancer syndrome 2017-06-07 criteria provided, single submitter clinical testing

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