LOVD - Variant listings for BRCA1

Patient data (#0001243)
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 2
DNA change c.81-65G>C
BIC DNA change IVS2-65G>C
Protein change -
Posterior P 2.45529E-08
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 0.25119808
Pathology LR 4.78942E-06
Sum Family LR -
Co-occurrence LR -
case-control LR 1.46535E-07
Product of LRs 0.00000120309
Comments -
DB-ID BRCA1_00711

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 2 c.81-65G>C IVS2-65G>C - 2.45529E-08 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 0.25119808 4.78942E-06 - - 1.46535E-07 0.00000120309 - BRCA1_00711