LOVD - Variant listings for BRCA1

Patient data (#0001185)
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 6
DNA change c.301+7G>A
BIC DNA change IVS6+7G>A
Protein change -
Posterior P 9.89343E-13
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 1.363440054
Pathology LR 0.001087452
Sum Family LR 0.037415892
Co-occurrence LR 0.068385089
case-control LR 1.27785E-05
Product of LRs 4.84778e-11
Comments -
DB-ID BRCA1_00653

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 6 c.301+7G>A IVS6+7G>A - 9.89343E-13 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 1.363440054 0.001087452 0.037415892 0.068385089 1.27785E-05 4.84778e-11 - BRCA1_00653