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	11
DNA change	c.1001C>A
BIC DNA change	1120C>A
Protein change	p.P334H
Posterior P	0.0266
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	0.02
Splicing prior P	0.01
Other Prior P	0.00
Combined prior P	0.02
Segregation LR	-
Pathology LR	0.139
Sum Family LR	9.65
Co-occurrence LR	-
case-control LR	-
Product of LRs	1.34135
Comments	-
DB-ID	BRCA1_00102

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

1120C>A

p.P334H

0.0266

2 - Likely not pathogenic or of little clinical significance

0.02

0.01

0.00

0.02

0.139

9.65

1.34135

BRCA1_00102

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