LOVD - Variant listings for BRCA2

Patient data (#0001291)
Disease -
Reference United States:Salt Lake City
Template DNA
Technique SEQ
Remarks -
# Reported 1
Submitter Tiana Francy

Variant data
Allele Unknown
Reported pathogenicity -
Concluded pathogenicity -
Exon 5
DNA change c.467A>G
BIC DNA change 695A>G
Protein change p.D156G
Posterior P -
IARC Class -
Key Observational Reference Parsons et al 2019
Prior P reference -
Missense analysis Prior P 0.02
Splicing prior P -
Other Prior P 0.02
Combined prior P 0.02
Segregation LR 0.295199976
Pathology LR -
Sum Family LR 1.146341562
Co-occurrence LR 1.62636286
case-control LR -
Product of LRs 0.550361194
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 5 c.467A>G 695A>G p.D156G - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.295199976 - 1.146341562 1.62636286 - 0.550361194 -