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	12
DNA change	c.6935A>T
BIC DNA change	7163A>T
Protein change	p.D2312V
Posterior P	0.00003
IARC Class	1 - Not pathogenic or of no clinical significance
Key Observational Reference	Easton DF et al., Am J Hum Genet, 81: 873-883, 2007.
Prior P reference	Vallee MP et al., Human Mutation 37: 627-639, 2016
Missense analysis Prior P	0.02
Splicing prior P	0.5
Other Prior P	0.00
Combined prior P	0.50
Segregation LR	0.0123
Pathology LR	-
Sum Family LR	1.15
Co-occurrence LR	1.86E-03
case-control LR	-
Product of LRs	2.63E-05
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

7163A>T

p.D2312V

0.00003

1 - Not pathogenic or of no clinical significance

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

Vallee MP et al., Human Mutation 37: 627-639, 2016

0.02

0.5

0.00

0.50

0.0123

1.15

1.86E-03

2.63E-05

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