LOVD - Variant listings for BRCA1

Patient data (#0000861)
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 -
Exon 11
DNA change c.2612C>A
BIC DNA change 2731C>A
Protein change p.P871Q
Posterior P -
IARC Class -
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 0.537367872
Co-occurrence LR 1.067279157
case-control LR -
Product of LRs 0.573521529
Comments -
DB-ID BRCA1_00329

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.2612C>A 2731C>A p.P871Q - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.537367872 1.067279157 - 0.573521529 - BRCA1_00329