LOVD - Variant listings for BRCA1

Patient data (#0000959)
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 no pathogenicity
Exon 7
DNA change c.398G>A
BIC DNA change 517G>A
Protein change p.R133H
Posterior P 0.002724453
IARC Class 2 - Likely not pathogenic or of little clinical significance
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 -
Pathology LR -
Sum Family LR 0.117517927
Co-occurrence LR 1.1390848
case-control LR -
Product of LRs 0.133862884
Comments -
DB-ID BRCA1_00427

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 7 c.398G>A 517G>A p.R133H 0.002724453 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.117517927 1.1390848 - 0.133862884 - BRCA1_00427