ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1911T>C (p.Thr637=) (rs62625305)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162772 SCV000213249 likely benign Hereditary cancer-predisposing syndrome 2014-07-01 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111731 SCV000144245 uncertain significance Breast-ovarian cancer, familial 1 2010-12-17 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000168494 SCV000219212 benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Color RCV000162772 SCV000683001 likely benign Hereditary cancer-predisposing syndrome 2015-07-20 criteria provided, single submitter clinical testing
Counsyl RCV000111731 SCV000220247 likely benign Breast-ovarian cancer, familial 1 2014-04-15 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168494 SCV000591355 benign not specified 2012-03-30 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111731 SCV000578223 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 RCV000168494 SCV000167245 benign not specified 2014-02-05 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 RCV000168494 SCV000918678 likely benign not specified 2017-09-18 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1911T>C (p.Thr637Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. MutationTaster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESEfinder predicts a gain of an SC35 binding motif. In vitro splicing, assessed by mini-gene assay, shows that the variant does not impact BRCA1 splicing (Anczukow_2008). This variant was found in 14/121762 control chromosomes from ExAC and literature cohorts, observed exclusively in the European (Non-Finnish) subpopulation at a frequency of 0.000195 (13/66706). This frequency is lower that the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). UMD classifies the variant as "likely neutral," citing 2 individuals whom have a co-occurrence of this variant with a likely pathogenic variant in either BRCA1 or BRCA2, suggesting that the variant of interest is a benign polymorphism. In addition, several clinical diagnostic laboratories/reputable databases in ClinVar classified this variant as likely benign/benign. Taken together, this variant is classified as likely benign.
Invitae RCV000047636 SCV000075649 benign Hereditary breast and ovarian cancer syndrome 2017-12-20 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000111731 SCV000195896 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679685 SCV000806903 likely benign not provided 2017-06-02 criteria provided, single submitter clinical testing

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