LOVD - Variant listings for BRCA2

Patient data (#0000265)
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 25
DNA change c.9275A>G
BIC DNA change 9503A>G
Protein change p.Y3092C
Posterior P 0.0250
IARC Class 2 - Likely not pathogenic or of little 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 0.81
Splicing prior P 0.01
Other Prior P 0.00
Combined prior P 0.81
Segregation LR 1.023
Pathology LR -
Sum Family LR 0.00457
Co-occurrence LR 1.2883
case-control LR -
Product of LRs 0.00602
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.9275A>G 9503A>G p.Y3092C 0.0250 2 - Likely not pathogenic or of little clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.81 0.01 0.00 0.81 1.023 - 0.00457 1.2883 - 0.00602 -