LOVD - Variant listings for BRCA2

Patient data (#0001741)
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 8
DNA change c.679G>A
BIC DNA change 907G>A
Protein change p.A227T
Posterior P 0.00144229
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 0.04
Other Prior P 0.02
Combined prior P 0.04
Segregation LR -
Pathology LR -
Sum Family LR 0.845804261
Co-occurrence LR 0.040984612
case-control LR -
Product of LRs 0.03466496
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 8 c.679G>A 907G>A p.A227T 0.00144229 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 0.04 0.02 0.04 - - 0.845804261 0.040984612 - 0.03466496 -