ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8417C>T (p.Ser2806Leu) (rs587782785)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132333 SCV000187421 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000132333 SCV000683964 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-24 criteria provided, single submitter clinical testing
Counsyl RCV000411091 SCV000489118 uncertain significance Breast-ovarian cancer, familial 2 2016-08-22 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000411091 SCV000744539 uncertain significance Breast-ovarian cancer, familial 2 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000679192 SCV000279530 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8417C>T at the cDNA level, p.Ser2806Leu (S2806L) at the protein level, and results in the change of a Serine to a Leucine (TCA>TTA). Using alternate nomenclature, this variant would be defined as BRCA2 8645C>T. This variant was observed in at least one individual with breast cancer and another with rectal cancer (Wong-Brown 2015, Pearlman 2016). BRCA2 Ser2806Leu was observed at an allele frequency of 0.21% (63/30,782) in individuals of South Asian ancestry in large population cohorts (Lek 2016). This variant is located at a DSS1 contacting residue within the DNA binding domain (Yang 2002). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA2 Ser2806Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000469575 SCV000560391 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679192 SCV000805778 uncertain significance not provided 2017-10-23 criteria provided, single submitter clinical testing

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