LOVD - Variant listings for BRCA2

Patient data (#0000303)
Disease -
Reference United States:Salt Lake City
Template DNA
Technique SEQ
Remarks -
# Reported 1
Submitter Andrew Paquette

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 25
DNA change c.9501+3A>T
BIC DNA change IVS25+3A>T
Protein change -
Posterior P 0.724
IARC Class 3 - Uncertain
Key Observational Reference Whiley et al., Human Mutation 32: 678-687, 2011
Prior P reference Vallee MP et al., Human Mutation 37: 627-639, 2016
Missense analysis Prior P -
Splicing prior P 0.34
Other Prior P 0.00
Combined prior P 0.34
Segregation LR 0.74
Pathology LR 1.19
Sum Family LR 2.29
Co-occurrence LR 2.52
case-control LR -
Product of LRs 5.08
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 25 c.9501+3A>T IVS25+3A>T - 0.724 3 - Uncertain Whiley et al., Human Mutation 32: 678-687, 2011 Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.34 0.00 0.34 0.74 1.19 2.29 2.52 - 5.08 -