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	-
Exon	15
DNA change	c.4625C>G
BIC DNA change	4744C>G
Protein change	p.S1542C
Posterior P	-
IARC Class	-
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	4.0156
Pathology LR	0.49
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	1.967644
Comments	-
DB-ID	BRCA1_00496

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

4744C>G

p.S1542C

Parsons et al 2019

0.02

4.0156

0.49

1.967644

BRCA1_00496

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