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.6100C>T
BIC DNA change	6328C>T
Protein change	p.R2034C
Posterior P	0.00000
IARC Class	1 - Not pathogenic or of no clinical significance
Key Observational Reference	Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008.
Prior P reference	Tavtigian et al., Human Mutation 29: 1342-1354, 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	0.178
Sum Family LR	1.55
Co-occurrence LR	0.001
case-control LR	-
Product of LRs	0.00028
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

6328C>T

p.R2034C

0.00000

1 - Not pathogenic or of no clinical significance

Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008.

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

0.02

0.01

0.00

0.02

0.178

1.55

0.001

0.00028

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