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

Variant data
Allele	Unknown
Reported pathogenicity	No known pathogenicity
Concluded pathogenicity	Unknown
Exon	11
DNA change	c.4258G>T
BIC DNA change	4486G>T
Protein change	p.D1420Y
Posterior P	0.00010
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	0.02
Other Prior P	0.00
Combined prior P	0.02
Segregation LR	-
Pathology LR	1.11
Sum Family LR	4.52
Co-occurrence LR	0.001
case-control LR	-
Product of LRs	0.00502
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

4486G>T

p.D1420Y

0.00010

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

0.00

0.02

1.11

4.52

0.001

0.00502

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