LOVD - Variant listings for BRCA2

Patient data (#0002029)
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 25
DNA change c.9501+4A>G
BIC DNA change IVS25+4A>G
Protein change -
Posterior P 0.003717912
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 -
Splicing prior P 0.34
Other Prior P 0.02
Combined prior P 0.34
Segregation LR 0.0037
Pathology LR 0.69
Sum Family LR 2.452255774
Co-occurrence LR 1.157084926
case-control LR -
Product of LRs 0.007244056
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 25 c.9501+4A>G IVS25+4A>G - 0.003717912 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 0.0037 0.69 2.452255774 1.157084926 - 0.007244056 -