ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) (rs4986846)

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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 RCV000162518 SCV000212912 likely benign Hereditary cancer-predisposing syndrome 2014-06-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000467834 SCV000540984 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111804 SCV000144350 uncertain significance Breast-ovarian cancer, familial 1 1998-11-17 no assertion criteria provided clinical testing
Color RCV000162518 SCV000688376 likely benign Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing
Counsyl RCV000111804 SCV000488498 likely benign Breast-ovarian cancer, familial 1 2016-04-13 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503559 SCV000591373 benign not specified 2012-11-07 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111804 SCV000577995 benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0015 (African), derived from ExAC (2014-12-17).
Integrated Genetics/Laboratory Corporation of America RCV000589539 SCV000698931 benign not provided 2016-03-16 criteria provided, single submitter clinical testing Variant summary: The c.2232T>C variant affects a non-conserved nucleotide, resulting in synonymous amino acid change. 5/5 splice-site tools via Alamut predict that this variant does not affect normal splicing. This variant was found in 17/121360 control chromosomes from the large and broad populations of ExAC at a frequency of 0.0001401. The variant was predominantly found in African sub-cohort with an allele frequency of 0.00153 (16/10398 chromosomes) which significantly exceeds the maximal expected frequency of a pathogenic allele (0.0010005) in this gene indicating that the variant is a benign polymorphism found in African population. The variant has been classified as a benign/likely benign by multiple clinical laboratories. Taken together, this variant has been classified as Benign.
Invitae RCV000195314 SCV000075781 benign Hereditary breast and ovarian cancer syndrome 2018-01-03 criteria provided, single submitter clinical testing

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