ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3874C>T (p.Leu1292=) (rs587780867)

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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 RCV000163188 SCV000213709 likely benign Hereditary cancer-predisposing syndrome 2014-07-11 criteria provided, single submitter clinical testing
Color RCV000163188 SCV000683589 likely benign Hereditary cancer-predisposing syndrome 2016-11-15 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495736 SCV000579130 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 RCV000123967 SCV000167359 benign not specified 2014-05-27 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 RCV000123967 SCV000918851 uncertain significance not specified 2017-10-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.3874C>T (p.Leu1292Leu) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/190350 control chromosomes (gnomAD) at a frequency of 0.0000053, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign," until additional information becomes available (ie, clinical and/or functional studies).
Invitae RCV000196186 SCV000253012 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679170 SCV000805701 likely benign not provided 2017-02-23 criteria provided, single submitter clinical testing

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