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	2
DNA change	c.19C>G
BIC DNA change	138C>G
Protein change	p.R7G
Posterior P	0.002998405
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	0.03
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.03
Segregation LR	0.2431
Pathology LR	0.4
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	0.09724
Comments	-
DB-ID	BRCA1_00277

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

138C>G

p.R7G

0.002998405

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.03

0.02

0.03

0.2431

0.4

0.09724

BRCA1_00277

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