LOVD - Variant listings for BRCA1

Patient data (#0000804)
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 1
DNA change c.-19-3A>G
BIC DNA change IVS1-3A>G
Protein change -
Posterior P 0.000863879
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 0.97
Other Prior P 0.02
Combined prior P 0.97
Segregation LR -
Pathology LR 1
Sum Family LR -
Co-occurrence LR -
case-control LR 2.6741E-05
Product of LRs 0.000026741
Comments -
DB-ID BRCA1_00272

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 1 c.-19-3A>G IVS1-3A>G - 0.000863879 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - 0.97 0.02 0.97 - 1 - - 2.6741E-05 0.000026741 - BRCA1_00272