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 |
- |
|