ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2490C>T (p.Asn830=) (rs56331088)

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Total submissions: 5
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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) RCV000495771 SCV000579187 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/).
Ambry Genetics RCV000167321 SCV000218171 likely benign Hereditary cancer-predisposing syndrome 2014-12-15 criteria provided, single submitter clinical testing
Invitae RCV000197619 SCV000253004 likely benign not provided 2018-08-24 criteria provided, single submitter clinical testing
Color RCV000167321 SCV000683489 likely benign Hereditary cancer-predisposing syndrome 2017-03-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779968 SCV000916935 likely benign not specified 2018-05-05 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.2490C>T alters a non-conserved nucleotide resulting in a synonymous change. The variant allele was found at a frequency of 5e-05 in 120788 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (5e-05 vs 0.00075), allowing no conclusion about variant significance. c.2490C>T has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer. These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variant(s) have been reported (BRCA2 c.2808_2811delACAA, p.Ala938fsX21), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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