ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4504C>T (p.Pro1502Ser) (rs80357383)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212183 SCV000210178 uncertain significance not provided 2014-05-29 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4504C>T at the cDNA level, p.Pro1502Ser (P1502S) at the protein level, and results in the change of a Proline to a Serine (CCA>TCA). This variant was predicted to create additional kinase binding sites, the clinical significance of which is unclear (Tram 2013). BRCA1 Pro1502Ser was not 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 Proline and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Pro1502Ser occurs at a position that is highly variable across species and is located in the SQ/TQ cluster domain (Roy 2012). In addition, in silico analyses predict that this variant is unlikely to alter protein structure or function. The variant is listed once in the Breast Information Core (BIC) database as having unknown significance. Based on currently available information, it is unclear whether BRCA1 Pro1502Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000214845 SCV000274417 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000214845 SCV000909022 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112350 SCV000145110 uncertain significance Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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.