ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.66A>C (p.Ala22=)

dbSNP: rs1555280115
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878829 SCV002130184 uncertain significance Hereditary breast ovarian cancer syndrome 2021-12-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 22 of the BRCA2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA2 protein. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV004601562 SCV005102147 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-19 criteria provided, single submitter clinical testing The c.66A>C variant (also known as p.A22A), located in coding exon 1 of the BRCA2 gene, results from an A to C substitution at nucleotide position 66. This nucleotide substitution does not change the alanine at codon 22. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site; however, direct evidence is insufficient at this time. Based on the available evidence, the clinical significance of this variant remains unclear.

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.