ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.731_732delinsCA (p.Asn244Thr) (rs1064794375)

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 RCV000483301 SCV000568992 uncertain significance not specified 2015-12-07 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.731_732delATinsCA at the cDNA level and p.Asn244Thr (N244T) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is AATA[AT][CA]GATT. This in frame deletion and insertion, also denoted BRCA1 850_851delATinsCA using alternate nomenclature, occurs on the same allele (in cis) and results in the missense change of an Asparagine to a Threonine (AAT>ACA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Neither BRCA1 c.731_732delATinsCA nor BRCA1 Asn244Thr (by this or an alternate nucleotide change) was observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Asparagine and Threonine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Asn244Thr occurs at a position that is not conserved and is located in a region that interacts with multiple proteins (Paul 2014). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, we consider BRCA1 Asn244Thr 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.