
| Patient data (#0000265) |
| Disease |
- |
| Reference |
United States:Salt Lake City |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Submitter |
Sean V. Tavtigian |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
No known pathogenicity |
| Concluded pathogenicity |
Unknown |
| Exon |
25 |
| DNA change |
c.9275A>G |
| BIC DNA change |
9503A>G |
| Protein change |
p.Y3092C |
| Posterior P |
0.0250 |
| IARC Class |
2 - Likely not pathogenic or of little clinical significance |
| Key Observational Reference |
Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. |
| Prior P reference |
Tavtigian et al., Human Mutation 29: 1342-1354, 2008. |
| Missense analysis Prior P |
0.81 |
| Splicing prior P |
0.01 |
| Other Prior P |
0.00 |
| Combined prior P |
0.81 |
| Segregation LR |
1.023 |
| Pathology LR |
- |
| Sum Family LR |
0.00457 |
| Co-occurrence LR |
1.2883 |
| case-control LR |
- |
| Product of LRs |
0.00602 |
| Comments |
- |
|