ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1554C>A (p.Ile518=) (rs1064794487)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483775 SCV000569304 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1554C>A at the DNA level. This variant is silent at the coding level, preserving an Isoleucine at codon 518. Using alternate nomenclature, this variant would be defined as BRCA1 1673C>A. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. BRCA1 c.1554C>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The nucleotide which is altered, a cytosine (C) at base 1554, is conserved in mammals. Based on currently available information, it is unclear whether BRCA1 c.1554C>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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.