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	5
DNA change	c.440A>G
BIC DNA change	668A>G
Protein change	p.Q147R
Posterior P	0.000602552
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	1.2789
Pathology LR	1.1449
Sum Family LR	0.177284374
Co-occurrence LR	0.113809233
case-control LR	-
Product of LRs	0.02954283
Comments	-

1 entry in BRCA2

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

Unknown

668A>G

p.Q147R

0.000602552

1 - Not pathogenic or of no clinical significance

Parsons et al 2019

0.02

1.2789

1.1449

0.177284374

0.113809233

0.02954283

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