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	8
DNA change	c.469T>C
BIC DNA change	588T>C
Protein change	p.S157P
Posterior P	0.008291213
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	0.02
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.02
Segregation LR	-
Pathology LR	-
Sum Family LR	0.383841549
Co-occurrence LR	1.067279157
case-control LR	-
Product of LRs	0.409666085
Comments	-
DB-ID	BRCA1_00506

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

588T>C

p.S157P

0.008291213

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.02

0.383841549

1.067279157

0.409666085

BRCA1_00506

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