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

Variant data
Allele	Unknown
Reported pathogenicity	-
Concluded pathogenicity	Probably no pathogenicity
Exon	7
DNA change	c.398G>A
BIC DNA change	517G>A
Protein change	p.R133H
Posterior P	0.002724453
IARC Class	2 - Likely not pathogenic or of little clinical significance
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.02
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.02
Segregation LR	-
Pathology LR	-
Sum Family LR	0.117517927
Co-occurrence LR	1.1390848
case-control LR	-
Product of LRs	0.133862884
Comments	-
DB-ID	BRCA1_00427

1 entry in BRCA1

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

DB-ID

Unknown

517G>A

p.R133H

0.002724453

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.02

0.117517927

1.1390848

0.133862884

BRCA1_00427

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