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.2803G>A
BIC DNA change	3031G>A
Protein change	p.D935N
Posterior P	0.00005
IARC Class	1 - Not pathogenic or of no clinical significance
Key Observational Reference	Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008.
Prior P reference	Vallee MP et al., Human Mutation 37: 627-639, 2016
Missense analysis Prior P	0.02
Splicing prior P	0.64
Other Prior P	0.00
Combined prior P	0.64
Segregation LR	2.7
Pathology LR	0.72
Sum Family LR	-
Co-occurrence LR	1.33E-05
case-control LR	-
Product of LRs	2.59E-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

3031G>A

p.D935N

0.00005

1 - Not pathogenic or of no clinical significance

Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008.

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

0.02

0.64

0.00

0.64

2.7

0.72

1.33E-05

2.59E-05

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