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

Variant data
Allele	Unknown
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
Exon	21
DNA change	c.5327C>A
BIC DNA change	5446C>A
Protein change	p.P1776H
Posterior P	0.0311
IARC Class	2 - Likely not pathogenic or of little clinical significance
Key Observational Reference	Spearman et al. 2008
Prior P reference	Tavtigian et al. 2008
Missense analysis Prior P	0.03
Splicing prior P	0.01
Other Prior P	0.00
Combined prior P	0.03
Segregation LR	-
Pathology LR	0.183
Sum Family LR	5.68
Co-occurrence LR	-
case-control LR	-
Product of LRs	1.03944
Comments	-
DB-ID	BRCA1_00101

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

5446C>A

p.P1776H

0.0311

2 - Likely not pathogenic or of little clinical significance

0.03

0.01

0.00

0.03

0.183

5.68

1.03944

BRCA1_00101

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