ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7252A>G (p.Arg2418Gly) (rs80358953)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045176 SCV000073189 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163032 SCV000213520 likely benign Hereditary cancer-predisposing syndrome 2019-01-31 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Counsyl RCV000113740 SCV000487827 likely benign Breast-ovarian cancer, familial 2 2015-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000443470 SCV000527881 likely benign not specified 2016-05-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586914 SCV000695051 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7252A>G (p.Arg2418Gly) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant is absent in 121330 control chromosomes. The variant has been reported in publications, without strong evidence for causality, and was considered likely benign using a multifactorial based model (Lindor_2012). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign, without evidence to independently evaluate. Taken together, this variant is classified as VUS.
Color Health, Inc RCV000163032 SCV001359210 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-30 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113740 SCV000147061 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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