ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.627C>T (p.Leu209=) (rs28897704)

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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 RCV000163068 SCV000213564 likely benign Hereditary cancer-predisposing syndrome 2014-09-08 criteria provided, single submitter clinical testing
Color RCV000163068 SCV000683765 likely benign Hereditary cancer-predisposing syndrome 2015-07-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495212 SCV000579140 likely benign Breast-ovarian cancer, familial 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/).
GeneDx RCV000160198 SCV000210548 benign not specified 2014-07-29 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.
Integrated Genetics/Laboratory Corporation of America RCV000589025 SCV000694955 likely benign not provided 2016-06-06 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.627C>T (p.Leu209Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing, which was confirmed by minigene studies (Giacomo_2013, Soukarieh_2016). This variant was found in 2/121164 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000195421 SCV000253023 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589025 SCV000805736 likely benign not provided 2017-10-27 criteria provided, single submitter clinical testing

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