LOVD - Variant listings for BRCA2

Patient data (#0000300)
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 15
DNA change c.7436-14T>G
BIC DNA change IVS14-14T>G
Protein change -
Posterior P 0.001
IARC Class 1 - Not pathogenic or of no clinical significance
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 0.04
Other Prior P 0.00
Combined prior P 0.04
Segregation LR 0.37
Pathology LR -
Sum Family LR 1.05
Co-occurrence LR 0.05
case-control LR -
Product of LRs 0.02
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 15 c.7436-14T>G IVS14-14T>G - 0.001 1 - Not pathogenic or of no clinical significance Whiley et al., Human Mutation 32: 678-687, 2011 Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.04 0.00 0.04 0.37 - 1.05 0.05 - 0.02 -