ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9257-10dup (rs276174919)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200094 SCV000252616 benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000486114 SCV000564802 likely benign not specified 2017-06-22 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 RCV000580222 SCV000684043 likely benign Hereditary cancer-predisposing syndrome 2017-01-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587274 SCV000695226 likely benign not provided 2016-06-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9257-10dupT 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. These predictions have been confirmed by a RNA-based functional study that it does not affect normal splicing (Houdayer_2012). This variant is absent in 109012 control chromosomes, however, it can still represent as a rare polymorphism in general population. It has been reported in patients with HBOC and has also been reported to co-occur with two different pathogenic variants in BRCA1 from BIC, namely BRCA1 c.3700_3704delGTAAA (p.Val1234_Asn1235?fs) and c.66_67delAG (p.Leu22_Glu23LeuValfs). Therefore, it is unlikely to be pathogenic. Two clinical labs have classified it as benign/likely benign. Taken together, this variant is currently classified as Likely Benign.
Sharing Clinical Reports Project (SCRP) RCV000077037 SCV000108834 likely benign Breast-ovarian cancer, familial 2 2011-02-25 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077037 SCV000147585 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology RCV000200094 SCV000916374 benign Hereditary breast and ovarian cancer syndrome 2019-03-01 no assertion criteria provided research

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