LOVD - Variant listings for BRCA2

Patient data (#0002048)
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 no pathogenicity
Exon 24
DNA change c.9242T>C
BIC DNA change 9470T>C
Protein change p.V3081A
Posterior P 0.005656703
IARC Class 2 - Likely not pathogenic or of little clinical significance
Key Observational Reference Parsons et al 2019
Prior P reference -
Missense analysis Prior P 0.29
Splicing prior P -
Other Prior P 0.02
Combined prior P 0.29
Segregation LR 1.8196
Pathology LR 0.89
Sum Family LR 0.77404129
Co-occurrence LR 1.129287087
case-control LR 0.009839044
Product of LRs 0.013927954
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 24 c.9242T>C 9470T>C p.V3081A 0.005656703 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.29 - 0.02 0.29 1.8196 0.89 0.77404129 1.129287087 0.009839044 0.013927954 -