LOVD - Variant listings for BRCA2

Patient data (#0001254)
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 No known pathogenicity
Exon 25
DNA change c.9502-12T>G
BIC DNA change IVS25-12T>G
Protein change -
Posterior P 3.99929E-07
IARC Class 1 - Not pathogenic or of no clinical significance
Key Observational Reference Parsons et al 2019
Prior P reference -
Missense analysis Prior P -
Splicing prior P 0.34
Other Prior P 0.02
Combined prior P 0.34
Segregation LR 0.76769076
Pathology LR 0.014379899
Sum Family LR -
Co-occurrence LR -
case-control LR 7.03243E-05
Product of LRs 0.000000776332
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.9502-12T>G IVS25-12T>G - 3.99929E-07 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 0.76769076 0.014379899 - - 7.03243E-05 0.000000776332 -