ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) (rs376257217)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164005 SCV000214608 likely benign Hereditary cancer-predisposing syndrome 2015-05-02 criteria provided, single submitter clinical testing
Color RCV000164005 SCV000683696 likely benign Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000495236 SCV000785148 likely benign Breast-ovarian cancer, familial 2 2017-05-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000437579 SCV000591960 likely benign not specified 2016-10-04 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495236 SCV000578699 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 RCV000437579 SCV000512366 benign not specified 2015-06-01 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.
Illumina Clinical Services Laboratory,Illumina RCV000284760 SCV000383715 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119238 SCV000383716 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590061 SCV000694858 likely benign not provided 2017-06-09 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5319G>A (p.Glu1773Glu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest has been found in a large, broad control population, ExAC in 2/120574 control chromosomes at a frequency of 0.0000166, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign, unknown significance. This variant was reported in one case of BrC without strong evidence for causality (Borg_2010). Also, this variant was reported co-occurring with two pathogenic BRCA1 variants: BRCA1 c.4327C>T (p.Arg1443X), BRCA1 c.5266dup (p.Gln1756ProfsX74), and 1 pathogenic BRCA2 variant, c.6275_6276delTT (p.Leu2092ProfsX7). Taken together, this variant is classified as "likely benign."
Invitae RCV000119238 SCV000153985 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-18 criteria provided, single submitter clinical testing

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