LOVD - Variant listings for BRCA2

Patient data (#0001730)
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.67+82C>G
BIC DNA change IVS2+82C>G
Protein change -
Posterior P 7.8219E-136
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 -
Pathology LR 1.46786E-18
Sum Family LR -
Co-occurrence LR -
case-control LR 2.6111E-116
Product of LRs 3.8327e-134
Comments -

1 entry in BRCA2

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
- Unknown 2 c.67+82C>G IVS2+82C>G - 7.8219E-136 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 - 1.46786E-18 - - 2.6111E-116 3.8327e-134 -