LOVD - Variant listings for BRCA1

Patient data (#0001244)
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 Unknown
Exon 2
DNA change c.81-6T>C
BIC DNA change IVS2-6T>C
Protein change -
Posterior P 0.069824614
IARC Class 3 - Uncertain
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 -
Pathology LR 0.32
Sum Family LR 0.298230158
Co-occurrence LR 1.526888007
case-control LR -
Product of LRs 0.145716496
Comments -
DB-ID BRCA1_00712

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 2 c.81-6T>C IVS2-6T>C - 0.069824614 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - 0.32 0.298230158 1.526888007 - 0.145716496 - BRCA1_00712