ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7448G>A (p.Ser2483Asn) (rs80358967)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129898 SCV000184716 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000083134 SCV000147091 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000129898 SCV000683873 likely benign Hereditary cancer-predisposing syndrome 2017-04-13 criteria provided, single submitter clinical testing
Counsyl RCV000083134 SCV000487957 uncertain significance Breast-ovarian cancer, familial 2 2015-12-10 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045220 SCV000592111 likely benign not specified 2013-08-07 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000045220 SCV000588113 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000045220 SCV000210649 likely benign not specified 2017-06-29 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.
Integrated Genetics/Laboratory Corporation of America RCV000586632 SCV000695068 uncertain significance not provided 2017-07-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7448G>A (p.Ser2483Asn) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNP&GO not captured here due to low reliability index score). This variant was found in 2/120614 control chromosomes at a frequency of 0.0000166, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been reported in multiple patients without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/ benign/VUS. UMD lists variant with co-occurrence of a pathogenic variant BRCA2 c.7115C>G/p.Ser2372X), supporting non-pathogenic role of this variant. Taken together, this variant is classified as VUS-possibly benign until more evidence becomes available.
Invitae RCV000195378 SCV000073233 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000586632 SCV000778709 likely benign not provided 2018-02-09 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083134 SCV000115208 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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