LOVD - Variant listings for BRCA1

Patient data (#0000796)
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 11
DNA change c.1846_1848del
BIC DNA change 1965del3
Protein change p.S616del
Posterior P 5.40107E-06
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 -
Other Prior P 0.02
Combined prior P 0.02
Segregation LR -
Pathology LR 0.00112896
Sum Family LR 1.730290135
Co-occurrence LR 0.135481723
case-control LR -
Product of LRs 0.000264654
Comments -
DB-ID BRCA1_00264

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 11 c.1846_1848del 1965del3 p.S616del 5.40107E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.00112896 1.730290135 0.135481723 - 0.000264654 - BRCA1_00264