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>C
BIC DNA change	8204G>C
Protein change	p.R2659T
Posterior P	0.998
IARC Class	5 - Definitely pathogenic
Key Observational Reference	Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006.
Prior P reference	Vallee MP et al., Human Mutation 37: 627-639, 2016
Missense analysis Prior P	0.81
Splicing prior P	0.34
Other Prior P	0.00
Combined prior P	0.97
Segregation LR	14.7
Pathology LR	1
Sum Family LR	1
Co-occurrence LR	1
case-control LR	-
Product of LRs	14.7
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>C

p.R2659T

0.998

5 - Definitely pathogenic

Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006.

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

0.81

0.34

0.00

0.97

14.7

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