ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.475+14C>T (rs55698822)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581860 SCV000688890 likely benign Hereditary cancer-predisposing syndrome 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV000637988 SCV000759468 likely benign not provided 2018-11-23 criteria provided, single submitter clinical testing
Counsyl RCV000663044 SCV000786087 likely benign Breast-ovarian cancer, familial 2 2018-02-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781062 SCV000918864 uncertain significance not specified 2017-10-10 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.475+14C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/246748 control chromosomes at a frequency of 0.00081%, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.07503%). One study reported the variant in an individual with personal/family history with BOC, however without evidence for or against causality (Barrios 2017). Taken together, this variant is classified as VUS - possibly benign, until additional evidence becomes available.

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