ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5124G>A (p.Ala1708=) (rs1057520432)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495025 SCV000578089 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;
GeneDx RCV000428604 SCV000515448 likely benign not specified 2016-08-31 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.
Invitae RCV000459329 SCV000560235 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575452 SCV000665801 likely benign Hereditary cancer-predisposing syndrome 2015-12-24 criteria provided, single submitter clinical testing
Color RCV000575452 SCV000683255 likely benign Hereditary cancer-predisposing syndrome 2017-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587745 SCV000699202 likely benign not provided 2017-01-23 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.5124G>A (p.Ala1708Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing, which has been confirmed by at least one functional study (Thery_2011). This variant was absent in 120626 control chromosomes. Co-occurrence of this variant and a pathogenic BRCA2 variant has been reported (BRCAShare database). Taken together, this variant is classified as likely benign.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.