LOVD - Variant listings for BRCA2

Patient data (#0002056)
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.9501+3A>T
BIC DNA change IVS25+3A>T
Protein change -
Posterior P 4.85229E-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 1.40967E-05
Pathology LR 0.073167114
Sum Family LR 0.362464414
Co-occurrence LR 2.519492999
case-control LR -
Product of LRs 0.000000941916
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 - 4.85229E-07 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 1.40967E-05 0.073167114 0.362464414 2.519492999 - 0.000000941916 -