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	24
DNA change	c.9155G>A
BIC DNA change	9383G>A
Protein change	p.R3052Q
Posterior P	0.008431864
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	0.66
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.66
Segregation LR	0.396585787
Pathology LR	5.10422528
Sum Family LR	0.058209553
Co-occurrence LR	0.048590003
case-control LR	0.765117
Product of LRs	0.004380624
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

9383G>A

p.R3052Q

0.008431864

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.66

0.02

0.66

0.396585787

5.10422528

0.058209553

0.048590003

0.765117

0.004380624

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