LOVD - Variant listings for BRCA2

Patient data (#0001795)
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 14
DNA change c.7051G>A
BIC DNA change 7279G>A
Protein change p.A2351T
Posterior P 0.003608186
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 0.320679
Sum Family LR 0.413289006
Co-occurrence LR 1.338845527
case-control LR -
Product of LRs 0.177441355
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 14 c.7051G>A 7279G>A p.A2351T 0.003608186 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.320679 0.413289006 1.338845527 - 0.177441355 -