LOVD - Variant listings for BRCA2

Patient data (#0002033)
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 27
DNA change c.9905G>A
BIC DNA change 10133G>A
Protein change p.R3302K
Posterior P 0.008016438
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 0.03
Splicing prior P -
Other Prior P 0.02
Combined prior P 0.03
Segregation LR -
Pathology LR 1.77
Sum Family LR 0.133940121
Co-occurrence LR 1.102157073
case-control LR -
Product of LRs 0.261292801
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 27 c.9905G>A 10133G>A p.R3302K 0.008016438 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 1.77 0.133940121 1.102157073 - 0.261292801 -