ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9925G>A (p.Glu3309Lys) (rs80359251)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130750 SCV000185641 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000112824 SCV000145732 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000130750 SCV000902904 likely benign Hereditary cancer-predisposing syndrome 2015-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000120378 SCV000210521 likely benign not specified 2017-07-10 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.
ITMI RCV000120378 SCV000084530 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000587472 SCV000695283 uncertain significance not provided 2017-04-07 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9925G>A (p.Glu3309Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). The variant of interest has been found in a large, broad control population, ExAC in 6/121258 control chromosomes, at a frequency of 0.0000495 (6/121258) which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance/likely benign. The variant has been reported in one affected individual (Pal_BRCA1&2_Cancer_2015) without strong evidence for causality. Because of the paucity of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000195387 SCV000073929 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120378 SCV000296744 uncertain significance not specified 2017-04-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112824 SCV000297582 benign Breast-ovarian cancer, familial 2 2009-12-17 no assertion criteria provided clinical testing

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