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	23
DNA change	c.9116C>G
BIC DNA change	9344C>G
Protein change	p.P3039R
Posterior P	-
IARC Class	-
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.03
Splicing prior P	0.97
Other Prior P	0.02
Combined prior P	0.97
Segregation LR	0.8288
Pathology LR	-
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	0.8288
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

9344C>G

p.P3039R

Parsons et al 2019

0.03

0.97

0.02

0.97

0.8288

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