LOVD - Variant listings for BRCA2

Patient data (#0001266)
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 Probably pathogenic
Exon 2
DNA change c.67+2T>C
BIC DNA change IVS2+2T>C
Protein change -
Posterior P 0.985499065
IARC Class 4 - Likely Pathogenic
Key Observational Reference Parsons et al 2019
Prior P reference -
Missense analysis Prior P -
Splicing prior P 0.97
Other Prior P 0.02
Combined prior P 0.97
Segregation LR -
Pathology LR -
Sum Family LR 1.861252833
Co-occurrence LR 1.129287087
case-control LR -
Product of LRs 2.101888789
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 2 c.67+2T>C IVS2+2T>C - 0.985499065 4 - Likely Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 1.861252833 1.129287087 - 2.101888789 -