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	11
DNA change	c.2245G>C
BIC DNA change	2364G>C
Protein change	p.D749H
Posterior P	-
IARC Class	-
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	0.9472
Pathology LR	-
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	0.9472
Comments	-
DB-ID	BRCA1_00301

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

2364G>C

p.D749H

Parsons et al 2019

0.02

0.9472

BRCA1_00301

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