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	19
DNA change	c.5189A>G
BIC DNA change	5308A>G
Protein change	p.N1730S
Posterior P	0.005656399
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	-
Pathology LR	0.64
Sum Family LR	0.269275008
Co-occurrence LR	1.067279157
case-control LR	-
Product of LRs	0.183930626
Comments	-
DB-ID	BRCA1_00555

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

5308A>G

p.N1730S

0.005656399

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.03

0.02

0.03

0.64

0.269275008

1.067279157

0.183930626

BRCA1_00555

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