Variants - Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified using a quantitative integrated evaluation

Variant data
Allele	Unknown
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
Exon	18
DNA change	c.7988A>T
BIC DNA change	8216A>T
Protein change	p.E2663V
Posterior P	0.999
IARC Class	5 - Definitely pathogenic
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	0.30
Other Prior P	0.00
Combined prior P	0.81
Segregation LR	138.04
Pathology LR	-
Sum Family LR	1.12
Co-occurrence LR	1.51
case-control LR	-
Product of LRs	233.45
Comments	-

1 entry in BRCA2

Path.

Allele

Exon

DNA change

BIC DNA change

Protein change

Posterior P

IARC Class

Key Observational Reference

Prior P reference

Missense analysis Prior P

Splicing prior P

Other Prior P

Combined prior P

Segregation LR

Pathology LR

Sum Family LR

Co-occurrence LR

case-control LR

Product of LRs

Comments

?/?

Unknown

8216A>T

p.E2663V

0.999

5 - Definitely pathogenic

Easton DF et al., Am J Hum Genet, 81: 873-883, 2007.

Tavtigian et al., Human Mutation 29: 1342-1354, 2008.

0.81

0.30

0.00

0.81

138.04

1.12

1.51

233.45

Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified using a quantitative integrated evaluation