LOVD - Variant listings for BRCA1

Patient data (#0000840)
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 pathogenic
Exon 6
DNA change c.230_238del
BIC DNA change 349delCGAGATTTA
Protein change p.T77_F79del
Posterior P 0.983204312
IARC Class 4 - Likely Pathogenic
Key Observational Reference Parsons et al 2019
Prior P reference -
Missense analysis Prior P -
Splicing prior P -
Other Prior P 0.02
Combined prior P 0.66
Segregation LR 1.8333
Pathology LR 16.4493
Sum Family LR -
Co-occurrence LR -
case-control LR -
Product of LRs 30.15650169
Comments -
DB-ID BRCA1_00308

1 entry in BRCA1

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
DB-ID Descending
Ascending
- Unknown 6 c.230_238del 349delCGAGATTTA p.T77_F79del 0.983204312 4 - Likely Pathogenic Parsons et al 2019 - - - 0.02 0.66 1.8333 16.4493 - - - 30.15650169 - BRCA1_00308