LOVD - Variant listings for BRCA2

Patient data (#0001775)
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 no pathogenicity
Exon 13
DNA change c.6995G>A
BIC DNA change 7223G>A
Protein change p.C2332Y
Posterior P 0.008289306
IARC Class 2 - Likely not pathogenic or of little 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 -
Pathology LR -
Sum Family LR 0.399731529
Co-occurrence LR 1.024615386
case-control LR -
Product of LRs 0.409571074
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 13 c.6995G>A 7223G>A p.C2332Y 0.008289306 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.399731529 1.024615386 - 0.409571074 -