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	17
DNA change	c.7976G>A
BIC DNA change	8204G>A
Protein change	R2659K
Posterior P	0.99943
IARC Class	5 - Definitely pathogenic
Key Observational Reference	Farrugia DJ et al., Cancer Research 68:3523-3531, 2008.
Prior P reference	Vallee MP et al., Human Mutation 37: 627-639, 2016
Missense analysis Prior P	0.29
Splicing prior P	0.34
Other Prior P	0.00
Combined prior P	0.34
Segregation LR	-
Pathology LR	-
Sum Family LR	1.55E+03
Co-occurrence LR	2.19
case-control LR	-
Product of LRs	3.39E+03
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

8204G>A

R2659K

0.99943

5 - Definitely pathogenic

Farrugia DJ et al., Cancer Research 68:3523-3531, 2008.

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

0.29

0.34

0.00

0.34

1.55E+03

2.19

3.39E+03

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