ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4110C>A (p.Gly1370=) (rs758430181)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663033 SCV000786069 likely benign Breast-ovarian cancer, familial 2 2018-02-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586666 SCV000694736 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4110C>A (p.Gly1370Gly) 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. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 120892 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000551821 SCV000635336 likely benign Hereditary breast and ovarian cancer syndrome 2017-01-12 criteria provided, single submitter clinical testing

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