ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3634_3639del (p.Asn1212_Glu1213del)

dbSNP: rs774186567
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531619 SCV000635295 uncertain significance Hereditary breast ovarian cancer syndrome 2022-08-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 462301). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant, c.3634_3639del, results in the deletion of 2 amino acid(s) of the BRCA2 protein (p.Asn1212_Glu1213del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774186567, gnomAD 0.007%).
Baylor Genetics RCV003459222 SCV004213628 uncertain significance Familial cancer of breast 2023-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004948407 SCV005551905 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-15 criteria provided, single submitter clinical testing The c.3634_3639delAATGAA variant (also known as p.N1212_E1213del) is located in coding exon 10 of the BRCA2 gene. This variant results from an in-frame AATGAA deletion at nucleotide positions 3634 to 3639. This results in the in-frame deletion of 2 amino acids (NE) at codons 1212 and 1213. These amino acid positions are not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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.