LOVD - Variant listings for BRCA1

Patient data (#0001051)
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 16
DNA change c.4816A>G
BIC DNA change 4935A>G
Protein change p.K1606E
Posterior P 0.000265668
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 0.081900008
Pathology LR -
Sum Family LR 0.114809233
Co-occurrence LR 1.384809842
case-control LR -
Product of LRs 0.013021197
Comments -
DB-ID BRCA1_00519

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 16 c.4816A>G 4935A>G p.K1606E 0.000265668 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.081900008 - 0.114809233 1.384809842 - 0.013021197 - BRCA1_00519