LOVD - Variant listings for BRCA2

Patient data (#0001889)
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.7435+6G>A
BIC DNA change IVS14+6G>A
Protein change -
Posterior P 0.009882611
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 0.051734839
Pathology LR 1.116067907
Sum Family LR 0.107374996
Co-occurrence LR 3.125166514
case-control LR -
Product of LRs 0.019375372
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.7435+6G>A IVS14+6G>A - 0.009882611 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 0.051734839 1.116067907 0.107374996 3.125166514 - 0.019375372 -