ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.682-12_682-11del (rs276174879)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231860 SCV000283300 benign Hereditary breast and ovarian cancer syndrome 2018-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000479948 SCV000564760 likely benign not specified 2017-12-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000580792 SCV000683815 benign Hereditary cancer-predisposing syndrome 2016-07-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000479948 SCV000918945 likely benign not specified 2018-08-24 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.682-12_682-11delTA alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing, which was confirmed by one functional study (Whiley_2011). The variant allele was found at a frequency of 0.00011 in 236946 control chromosomes in the gnomAD database, including 1 homozygotes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (0.00011 vs 0.00075), allowing no conclusion about variant significance. c.682-12_682-11delTA has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Borg_2010, Spearman_2008). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Sharing Clinical Reports Project (SCRP) RCV000031649 SCV000054256 benign Breast-ovarian cancer, familial 2 2009-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031649 SCV000147477 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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