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.8168A>G
BIC DNA change	8396A>G
Protein change	P.D2723G
Posterior P	0.998
IARC Class	5 - Definitely pathogenic
Key Observational Reference	Easton DF et al., Am J Hum Genet, 81: 873-883, 2007.
Prior P reference	Vallee MP et al., Human Mutation 37: 627-639, 2016
Missense analysis Prior P	0.81
Splicing prior P	0.64
Other Prior P	0.00
Combined prior P	0.81
Segregation LR	1
Pathology LR	1
Sum Family LR	75.86
Co-occurrence LR	1.59
case-control LR	-
Product of LRs	120.6
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

8396A>G

P.D2723G

0.998

5 - Definitely pathogenic

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

Vallee MP et al., Human Mutation 37: 627-639, 2016

0.81

0.64

0.00

0.81

75.86

1.59

120.6

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