LOVD - Variant listings for BRCA2

Patient data (#0001382)
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 -
Exon 11
DNA change c.2187A>G
BIC DNA change 2415A>G
Protein change p.I729M
Posterior P -
IARC Class -
Key Observational Reference Parsons et al 2019
Prior P reference -
Missense analysis Prior P 0.02
Splicing prior P -
Other Prior P 0.02
Combined prior P 0.02
Segregation LR 1.6305
Pathology LR 1.06
Sum Family LR -
Co-occurrence LR -
case-control LR -
Product of LRs 1.72833
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 11 c.2187A>G 2415A>G p.I729M - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.6305 1.06 - - - 1.72833 -