ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) (rs80358545)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130463 SCV000185328 likely benign Hereditary cancer-predisposing syndrome 2017-09-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113125 SCV000146156 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000130463 SCV000688782 likely benign Hereditary cancer-predisposing syndrome 2016-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000044098 SCV000210584 likely benign not specified 2017-10-09 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.
Illumina Clinical Services Laboratory,Illumina RCV000167829 SCV000383669 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324539 SCV000383670 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044098 SCV000918960 uncertain significance not specified 2018-01-12 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2987T>G (p.Leu996Arg) variant involves the alteration of a non-conserved nucleotide and is predicted to be benign by 3/5 in silico tools. This variant was found in 13/296264 control chromosomes (gnomAD and FLOSSIES db) at a frequency of 0.0000439, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant was reported in an ovarian cancer patient with a strong family history of breast cancer who also carried another pathogenic BRCA2 variant c.3847_3848delGT (Root_2012) and authors classify the variant of interest as a polymorphism. Multiple reputable clinical laboratories/reputable databases have classified the variant of interest as likely benign (2) or uncertain significance (4). Taken together, this variant is currently classified as VUS-possibly benign.
Invitae RCV000167829 SCV000072111 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-10 criteria provided, single submitter clinical testing
Mendelics RCV000167829 SCV000838781 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679165 SCV000805682 likely benign not provided 2017-12-11 criteria provided, single submitter clinical testing

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