LOVD - Variant listings for BRCA2

Patient data (#0000263)
Disease -
Reference United States:Salt Lake City
Template DNA
Technique SEQ
Remarks -
# Reported 1
Submitter Sean V. Tavtigian

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 26
DNA change c.9509A>G
BIC DNA change 9737A>G
Protein change p.D3170G
Posterior P 0.00003
IARC Class 1 - Not pathogenic or of no clinical significance
Key Observational Reference Easton DF et al., Am J Hum Genet, 81: 873-883, 2007.
Prior P reference Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
Missense analysis Prior P 0.03
Splicing prior P 0.01
Other Prior P 0.00
Combined prior P 0.02
Segregation LR 0.038
Pathology LR -
Sum Family LR 0.0288
Co-occurrence LR 1.175
case-control LR -
Product of LRs 0.00129
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 26 c.9509A>G 9737A>G p.D3170G 0.00003 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.02 0.038 - 0.0288 1.175 - 0.00129 -