LOVD - Variant listings for BRCA1

Patient data (#0001036)
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 pathogenic
Exon 15
DNA change c.4676-2A>G
BIC DNA change IVS15-2A>G
Protein change -
Posterior P 0.987072432
IARC Class 4 - Likely Pathogenic
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 -
Sum Family LR 2.285823557
Co-occurrence LR 1.033092037
case-control LR -
Product of LRs 2.361466115
Comments -
DB-ID BRCA1_00504

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 15 c.4676-2A>G IVS15-2A>G - 0.987072432 4 - Likely Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 2.285823557 1.033092037 - 2.361466115 - BRCA1_00504