ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4653T>C (p.Ser1551=) (rs587780863)

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Total submissions: 8
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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) RCV000211015 SCV000578353 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 RCV000123924 SCV000167308 benign not specified 2014-02-03 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.
Michigan Medical Genetics Laboratories,University of Michigan RCV000211015 SCV000195931 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163077 SCV000213578 likely benign Hereditary cancer-predisposing syndrome 2015-03-02 criteria provided, single submitter clinical testing
Invitae RCV000233486 SCV000289806 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-10 criteria provided, single submitter clinical testing
Counsyl RCV000211015 SCV000489249 likely benign Breast-ovarian cancer, familial 1 2016-09-11 criteria provided, single submitter clinical testing
Color RCV000163077 SCV000688509 likely benign Hereditary cancer-predisposing syndrome 2017-09-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586022 SCV000699161 likely benign not provided 2017-01-18 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.4653T>C (p.Ser1551Ser) 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. 5/5 splice prediction tools predict no significant impact on normal splicing, which is supported by the minigene-based splicing assay results in Houdayer et al 2012. This variant was found in 3/121366 control chromosomes at a frequency of 0.0000247, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as likely benign.

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