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	22
DNA change	c.8953+1G>T
BIC DNA change	IVS22+1G>T
Protein change	-
Posterior P	0.998
IARC Class	5 - Definitely pathogenic
Key Observational Reference	Whiley et al., Human Mutation 32: 678-687, 2011
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	-
Pathology LR	-
Sum Family LR	12.02
Co-occurrence LR	1.17
case-control LR	-
Product of LRs	14.06
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

IVS22+1G>T

0.998

5 - Definitely pathogenic

Whiley et al., Human Mutation 32: 678-687, 2011

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

0.97

0.00

0.97

12.02

1.17

14.06

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