LOVD - Variant listings for BRCA2

Patient data (#0001866)
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 17
DNA change c.7806-2_7806-1dup
BIC DNA change IVS16-2insAG
Protein change -
Posterior P 0.999736734
IARC Class 5 - Pathogenic
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 0.99
Segregation LR 8.7662
Pathology LR 4.37566656
Sum Family LR -
Co-occurrence LR -
case-control LR -
Product of LRs 38.3579682
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.7806-2_7806-1dup IVS16-2insAG - 0.999736734 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.99 8.7662 4.37566656 - - - 38.3579682 -