ClinVar Miner

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

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Total submissions: 9
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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 RCV001080119 SCV000252613 benign Hereditary breast and ovarian cancer syndrome 2020-12-07 criteria provided, single submitter clinical testing
Color Health, Inc RCV000580625 SCV000683812 benign Hereditary cancer-predisposing syndrome 2016-05-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289699 SCV001477674 likely benign none provided 2020-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000589700 SCV001894974 benign not provided 2015-03-19 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031647 SCV000054254 benign Breast-ovarian cancer, familial 2 2012-05-03 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000589700 SCV001906269 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000589700 SCV001928840 likely benign not provided no assertion criteria provided clinical testing

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