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.4609G>A
BIC DNA change	4837G>A
Protein change	p.E1537K
Posterior P	0.000
IARC Class	1 - Not pathogenic or of no clinical significance
Key Observational Reference	Whiley PJ et al., PLoS One. 2014 Jan 28, 9(1):e86836.
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	4.00E-03
Pathology LR	-
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	4.00E-03
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

4837G>A

p.E1537K

0.000

1 - Not pathogenic or of no clinical significance

Whiley PJ et al., PLoS One. 2014 Jan 28, 9(1):e86836.

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

0.02

0.00

0.02

4.00E-03

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