LOVD - Variant listings for BRCA2

Patient data (#0001818)
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 3
DNA change c.73G>A
BIC DNA change 301G>A
Protein change p.G25R
Posterior P -
IARC Class -
Key Observational Reference Parsons et al 2019
Prior P reference -
Missense analysis Prior P 0.81
Splicing prior P -
Other Prior P 0.02
Combined prior P 0.81
Segregation LR -
Pathology LR -
Sum Family LR 0.516123134
Co-occurrence LR 1.024615386
case-control LR -
Product of LRs 0.528827704
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 3 c.73G>A 301G>A p.G25R - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.516123134 1.024615386 - 0.528827704 -