ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1617G>A (p.Thr539=) (rs372002119)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164403 SCV000215039 likely benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
Color RCV000164403 SCV000909372 likely benign Hereditary cancer-predisposing syndrome 2017-12-06 criteria provided, single submitter clinical testing
Counsyl RCV000495451 SCV000786371 likely benign Breast-ovarian cancer, familial 1 2018-04-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503015 SCV000591344 benign not specified 2015-12-03 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495451 SCV000578339 likely benign Breast-ovarian cancer, familial 1 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 RCV000503015 SCV000731115 likely benign not specified 2017-08-25 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 RCV000588370 SCV000698879 likely benign not provided 2016-06-30 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1617G>A (p.Thr539Thr) 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 along with 3/5 slice site tools predicting the variant not to have an impact on normal splicing. This variant was found in 6/121200 control chromosomes at a frequency of 0.0000495, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). It was reported in HBOC patients, however without strong evidence for pathogenicity such as co-segregation information. The variant was reported to co-occur with a potentially pathogenic BRCA1 variant c.2429delA (p.Asn810ThrfsX5) in one individual indicating a benign nature. One clinical diagnostic laboratory classified this variant as Likely benign via ClinVar (without evidence to independently evaluate). Taken together, this variant is classified as Likely Benign.
Invitae RCV000231207 SCV000289747 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588370 SCV000887629 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing

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