LOVD - Variant listings for BRCA2

Patient data (#0001289)
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 Probably pathogenic
Exon 24
DNA change c.9257-1G>C
BIC DNA change IVS24-1G>C
Protein change -
Posterior P 0.965446935
IARC Class 4 - Likely Pathogenic
Key Observational Reference Parsons et al 2019
Prior P reference -
Missense analysis Prior P -
Splicing prior P 0.34
Other Prior P 0.02
Combined prior P 0.34
Segregation LR 1.292905831
Pathology LR 0.7632
Sum Family LR 47.50467539
Co-occurrence LR 1.157084926
case-control LR -
Product of LRs 54.23839711
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 24 c.9257-1G>C IVS24-1G>C - 0.965446935 4 - Likely Pathogenic Parsons et al 2019 - - 0.34 0.02 0.34 1.292905831 0.7632 47.50467539 1.157084926 - 54.23839711 -