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	23
DNA change	c.9117G>A
BIC DNA change	9345G>A
Protein change	p.P3039P
Posterior P	1.000
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	0.02
Splicing prior P	0.97
Other Prior P	0.00
Combined prior P	0.97
Segregation LR	1
Pathology LR	1
Sum Family LR	65.28
Co-occurrence LR	2.23
case-control LR	-
Product of LRs	145.6
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

9345G>A

p.P3039P

1.000

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

0.02

0.97

0.00

0.97

65.28

2.23

145.6

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