ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1905T>C (p.Asn635=) (rs369373293)

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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) RCV000495332 SCV000578184 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 RCV000123896 SCV000167244 benign not specified 2014-05-13 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.
Ambry Genetics RCV000163183 SCV000213704 likely benign Hereditary cancer-predisposing syndrome 2015-07-01 criteria provided, single submitter clinical testing
Invitae RCV000586633 SCV000261343 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Color RCV000163183 SCV000683000 likely benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586633 SCV000698898 likely benign not provided 2016-08-16 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1905T>C (p.Asn635Asn) 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. ESE finder predicts that this variant does not affect any ESE site. This variant was found in 4/121312 control chromosomes at a frequency of 0.000033, 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/likely benign. Taken together, this variant is classified as likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586633 SCV000888855 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000495332 SCV001140592 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing

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