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	Probably pathogenic
Exon	13
DNA change	c.7007G>A
BIC DNA change	7235G>A
Protein change	p.R2336H
Posterior P	0.962
IARC Class	4 - Likely 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	0.34
Other Prior P	0.00
Combined prior P	0.34
Segregation LR	1
Pathology LR	1
Sum Family LR	20.33
Co-occurrence LR	2.46
case-control LR	-
Product of LRs	50.01
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

7235G>A

p.R2336H

0.962

4 - Likely 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

0.34

0.00

0.34

20.33

2.46

50.01

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