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	6
DNA change	c.476-2A>G
BIC DNA change	IVS5-2A>G
Protein change	-
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	Vallee MP et al., Human Mutation 37: 627-639, 2016
Missense analysis Prior P	-
Splicing prior P	0.97
Other Prior P	0.00
Combined prior P	0.97
Segregation LR	1
Pathology LR	-
Sum Family LR	18.20
Co-occurrence LR	1.17
case-control LR	-
Product of LRs	21.38
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

IVS5-2A>G

0.999

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

0.97

0.00

0.97

18.20

1.17

21.38

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