LOVD - Variant listings for BRCA2

Patient data (#0001515)
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 Unknown
Exon 4
DNA change c.426-12G>A
BIC DNA change IVS4-12G>A
Protein change -
Posterior P 0.168552141
IARC Class 3 - Uncertain
Key Observational Reference Parsons et al 2019
Prior P reference -
Missense analysis Prior P -
Splicing prior P 0.34
Other Prior P 0.02
Combined prior P 0.34
Segregation LR -
Pathology LR -
Sum Family LR 0.374837062
Co-occurrence LR 1.049836689
case-control LR -
Product of LRs 0.3935177
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 4 c.426-12G>A IVS4-12G>A - 0.168552141 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.374837062 1.049836689 - 0.3935177 -