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	No known pathogenicity
Exon	13
DNA change	c.4327C>G
BIC DNA change	4446C>G
Protein change	p.R1443G
Posterior P	2.2324E-06
IARC Class	1 - Not pathogenic or of no 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	0.05045792
Pathology LR	0.16
Sum Family LR	0.007065452
Co-occurrence LR	1.917698298
case-control LR	-
Product of LRs	0.000109388
Comments	-
DB-ID	BRCA1_00469

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

4446C>G

p.R1443G

2.2324E-06

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.02

0.05045792

0.16

0.007065452

1.917698298

0.000109388

BRCA1_00469

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