LOVD - Variant listings for BRCA2

Patient data (#0000284)
Disease -
Reference United States:Salt Lake City
Template DNA
Technique SEQ
Remarks -
# Reported 1
Submitter Sean V. Tavtigian

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 17
DNA change c.7976G>C
BIC DNA change 8204G>C
Protein change p.R2659T
Posterior P 0.998
IARC Class 5 - Definitely pathogenic
Key Observational Reference Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006.
Prior P reference Vallee MP et al., Human Mutation 37: 627-639, 2016
Missense analysis Prior P 0.81
Splicing prior P 0.34
Other Prior P 0.00
Combined prior P 0.97
Segregation LR 14.7
Pathology LR 1
Sum Family LR 1
Co-occurrence LR 1
case-control LR -
Product of LRs 14.7
Comments -

1 entry in BRCA2

Path. Allele
Exon Descending
Ascending
DNA change Descending
Ascending
BIC DNA change Descending
Ascending
Protein change Descending
Ascending
Posterior P Descending
Ascending
IARC Class Descending
Ascending
Key Observational Reference Descending
Ascending
Prior P reference Descending
Ascending
Missense analysis Prior P Descending
Ascending
Splicing prior P Descending
Ascending
Other Prior P Descending
Ascending
Combined prior P Descending
Ascending
Segregation LR Descending
Ascending
Pathology LR Descending
Ascending
Sum Family LR Descending
Ascending
Co-occurrence LR Descending
Ascending
case-control LR Descending
Ascending
Product of LRs Descending
Ascending
Comments Descending
Ascending
?/? Unknown 17 c.7976G>C 8204G>C p.R2659T 0.998 5 - Definitely pathogenic Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Vallee MP et al., Human Mutation 37: 627-639, 2016 0.81 0.34 0.00 0.97 14.7 1 1 1 - 14.7 -