ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6868T>C (p.Leu2290=)

gnomAD frequency: 0.00001  dbSNP: rs876660341
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494777 SCV000578907 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000214694 SCV000277686 likely benign Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759649 SCV000889112 likely benign not provided 2022-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089175 SCV001011560 likely benign Hereditary breast ovarian cancer syndrome 2024-06-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001804959 SCV002051063 likely benign not specified 2021-12-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000214694 SCV004362182 likely benign Hereditary cancer-predisposing syndrome 2022-08-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804923 SCV005424557 likely benign BRCA2-related cancer predisposition 2024-09-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353833 SCV000592080 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The p.Leu2290Leu variant has not been reported in the literature nor previously identified by our laboratory. The p.Leu2290Leu variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction, and is listed in dbSNP database (ID#: rs34545365) as a rare variant with an average heterozygosity of 0.002+/-0.032, increasing the likelihood that this is a low frequency benign variant. In summary, based on the above information this variant is classified as Predicted Benign

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