ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.68-7dup (rs276174878)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000031647 SCV000221128 likely benign Breast-ovarian cancer, familial 2 2015-02-11 criteria provided, single submitter literature only
Invitae RCV000199663 SCV000252613 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Color RCV000580625 SCV000683812 benign Hereditary cancer-predisposing syndrome 2016-05-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589700 SCV000695004 benign not provided 2016-06-10 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.68-7dupT variant involves an insertion 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 is absent in 118368 control chromosomes. This variant has been observed to co-occur with another potentially pathogenic variant in BRCA1 (Press_2008) and BRCA2 c.1813dup/p.Ile605AsnfsX11 (UMD) and c.1949_1950delTA/p.Ile650LysfsX22 (Diez_2011). One internal sample also carried a pathogenic BRCA1 variant c.5387C>A/p.Ser1796X. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as Benign.
Sharing Clinical Reports Project (SCRP) RCV000031647 SCV000054254 benign Breast-ovarian cancer, familial 2 2012-05-03 no assertion criteria provided clinical testing

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