LOVD - Variant listings for BRCA1

Patient data (#0001072)
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 8
DNA change c.508C>T
BIC DNA change 627C>T
Protein change p.R170G
Posterior P 0.000758678
IARC Class 1 - Not pathogenic or of no 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 0.544
Sum Family LR 0.064077593
Co-occurrence LR 1.067279157
case-control LR -
Product of LRs 0.037203442
Comments -
DB-ID BRCA1_00540

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 8 c.508C>T 627C>T p.R170G 0.000758678 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.544 0.064077593 1.067279157 - 0.037203442 - BRCA1_00540