ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6892G>A (p.Glu2298Lys) (rs80358914)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045085 SCV000073098 likely benign Hereditary breast and ovarian cancer syndrome 2017-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000218893 SCV000278351 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-14 criteria provided, single submitter clinical testing
Counsyl RCV000083131 SCV000488459 uncertain significance Breast-ovarian cancer, familial 2 2016-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000433666 SCV000512383 likely benign not specified 2017-03-24 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 RCV000218893 SCV000911664 likely benign Hereditary cancer-predisposing syndrome 2015-06-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000433666 SCV000917005 uncertain significance not specified 2018-01-05 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6892G>A (p.Glu2298Lys) variant involves the alteration of a conserved nucleotide and 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). However, these predictions have yet to be functionally assessed. This variant is absent in 245284 control chromosomes (gnomAD). A publication, Cherbal_2012, cites the variant in one affected individual with limited information (ie, lack of co-occurrence and cosegregation data). A reputable database, BIC, cites the variant to co-occur with another potentially pathogenic BRCA1 variant, c.5035_5039delCTAAT (p.Leu1679fsX2) in an individual. In addition, multiple clinical diagnostic laboratories/reputable databases cite this variant with conflicting classifications as "benign/likely benign" or "uncertain significance." Taken together, this variant is classified as a "Variant of Uncertain Significance (VUS)."
Sharing Clinical Reports Project (SCRP) RCV000083131 SCV000115205 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083131 SCV000146968 uncertain significance Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing

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