LOVD - Variant listings for BRCA2

Patient data (#0001510)
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 11
DNA change c.4146_4148del
BIC DNA change 4374del3
Protein change -
Posterior P 1.46195E-06
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 0.00045009
Pathology LR 0.81
Sum Family LR 0.115081821
Co-occurrence LR 1.707415377
case-control LR -
Product of LRs 0.0000716358
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 11 c.4146_4148del 4374del3 - 1.46195E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 0.00045009 0.81 0.115081821 1.707415377 - 0.0000716358 -