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	24
DNA change	c.9155G>A
BIC DNA change	9383G>A
Protein change	p.R3052Q
Posterior P	0.00544
IARC Class	2 - Likely not pathogenic or of little clinical significance
Key Observational Reference	Easton DF et al., Am J Hum Genet, 81: 873-883, 2007.
Prior P reference	Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
Missense analysis Prior P	0.66
Splicing prior P	0.01
Other Prior P	0.00
Combined prior P	0.66
Segregation LR	1
Pathology LR	-
Sum Family LR	0.0575
Co-occurrence LR	0.049
case-control LR	-
Product of LRs	0.00282
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

9383G>A

p.R3052Q

0.00544

2 - Likely not pathogenic or of little clinical significance

Easton DF et al., Am J Hum Genet, 81: 873-883, 2007.

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

0.66

0.01

0.00

0.66

0.0575

0.049

0.00282

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