ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del) (rs11571587)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160245 SCV000210657 likely benign not specified 2017-06-28 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.
Ambry Genetics RCV000164468 SCV000215112 likely benign Hereditary cancer-predisposing syndrome 2018-07-16 criteria provided, single submitter clinical testing Other data supporting benign classification
Invitae RCV000205603 SCV000261016 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000164468 SCV000683436 benign Hereditary cancer-predisposing syndrome 2016-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000160245 SCV000916838 likely benign not specified 2017-09-11 criteria provided, single submitter clinical testing Variant summary: The c.165_167delCAA (p.Asn56del) in BRCA2 gene leads to an in-frame deletion of one amino acids from the non-repeat region that is located outside of any known functional domain or repeat. The variant is present in the control population datasets of ExAC and gnomAD at frequency of 0.000024 (3/ 121174 and 5/ 246204 chrs tested, respectively). The variant of interest has been reported in several affected individuals via publications without strong evidence for causality (de Juan Jimenez_2011). In addition, BIC database reports co-occurrence of c. 165_167delCAA with known pathogenic variants, BRCA1 c.5177_5180delGAAA and BRCA2 c.1929_1929delG. Lastly, multiple reputable databases/clinical laboratories cite the variant with the classification Likely Benign/Benign. Taking together, the variant was classified as Likely Benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091525 SCV001247633 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082888 SCV000114962 benign Breast-ovarian cancer, familial 2 2010-01-28 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000082888 SCV000146283 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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