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.3156A>C
BIC DNA change	3384A>C
Protein change	p.A1052A
Posterior P	0.001
IARC Class	1 - Not pathogenic or of no clinical significance
Key Observational Reference	Thomassen M et al., Breast Cancer Res Treat. 2012 Apr, 132(3):1009-23.
Prior P reference	Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
Missense analysis Prior P	0.02
Splicing prior P	0.02
Other Prior P	0.00
Combined prior P	0.02
Segregation LR	0.025
Pathology LR	-
Sum Family LR	-
Co-occurrence LR	1.03
case-control LR	-
Product of LRs	0.0256
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

3384A>C

p.A1052A

0.001

1 - Not pathogenic or of no clinical significance

Thomassen M et al., Breast Cancer Res Treat. 2012 Apr, 132(3):1009-23.

Tavtigian et al., Human Mutation 29: 1342-1354, 2008.

0.02

0.00

0.02

0.025

1.03

0.0256

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