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	3
DNA change	c.125A>G
BIC DNA change	353A>G
Protein change	p.Y42C
Posterior P	0.00000
IARC Class	1 - Not pathogenic or of no clinical significance
Key Observational Reference	Goldgar et al., AJHG 75: 535-544, 2004.
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	0.00000067
Pathology LR	-
Sum Family LR	-
Co-occurrence LR	8.9E-11
case-control LR	-
Product of LRs	5.96300E-17
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

353A>G

p.Y42C

0.00000

1 - Not pathogenic or of no clinical significance

Goldgar et al., AJHG 75: 535-544, 2004.

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

0.02

0.01

0.00

0.02

0.00000067

8.9E-11

5.96300E-17

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