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 pathogenic
Exon	19
DNA change	c.5193+1G>A
BIC DNA change	IVS19+1G>A
Protein change	-
Posterior P	0.98561825
IARC Class	4 - Likely Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	-
Splicing prior P	0.97
Other Prior P	0.02
Combined prior P	0.97
Segregation LR	1.2692
Pathology LR	1.67
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	2.119564
Comments	-
DB-ID	BRCA1_00557

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

IVS19+1G>A

0.98561825

4 - Likely Pathogenic

Parsons et al 2019

0.97

0.02

0.97

1.2692

1.67

2.119564

BRCA1_00557

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