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	7
DNA change	c.397C>T
BIC DNA change	516C>T
Protein change	p.R133G
Posterior P	3.11854E-07
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	0.0001
Pathology LR	0.4
Sum Family LR	0.357939218
Co-occurrence LR	1.067279157
case-control LR	-
Product of LRs	0.0000152808
Comments	-
DB-ID	BRCA1_00425

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

516C>T

p.R133G

3.11854E-07

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.02

0.0001

0.4

0.357939218

1.067279157

0.0000152808

BRCA1_00425

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