LOVD - Variant listings for BRCA1

Patient data (#0000359)
Disease -
Reference United States:Salt Lake City
Template DNA
Technique SEQ
Remarks -
# Reported 1
Submitter Sean V. Tavtigian

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 11
DNA change c.1258G>T
BIC DNA change 1377G>T
Protein change p.D420Y
Posterior P 0.01418
IARC Class 2 - Likely not pathogenic or of little clinical significance
Key Observational Reference Easton et al. 2007
Prior P reference Vallee et al. 2016
Missense analysis Prior P 0.02
Splicing prior P 0.64
Other Prior P 0.00
Combined prior P 0.64
Segregation LR 1
Pathology LR -
Sum Family LR 6.92E-03
Co-occurrence LR 1.17
case-control LR -
Product of LRs 8.09E-03
Comments -
DB-ID BRCA1_00152

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 11 c.1258G>T 1377G>T p.D420Y 0.01418 2 - Likely not pathogenic or of little clinical significance Easton et al. 2007 Vallee et al. 2016 0.02 0.64 0.00 0.64 1 - 6.92E-03 1.17 - 8.09E-03 - BRCA1_00152