LOVD - Variant listings for BRCA2

Patient data (#0001846)
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 6
DNA change c.516+14C>T
BIC DNA change IVS6+14C>T
Protein change -
Posterior P -
IARC Class -
Key Observational Reference Parsons et al 2019
Prior P reference -
Missense analysis Prior P -
Splicing prior P -
Other Prior P 0.02
Combined prior P 0.02
Segregation LR 0.6953
Pathology LR 1.1236
Sum Family LR -
Co-occurrence LR -
case-control LR -
Product of LRs 0.78123908
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 6 c.516+14C>T IVS6+14C>T - - - Parsons et al 2019 - - - 0.02 0.02 0.6953 1.1236 - - - 0.78123908 -