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.6322C>T
BIC DNA change	6550C>T
Protein change	p.R2108C
Posterior P	0.001
IARC Class	2 - Likely not pathogenic or of little 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	0.06
Pathology LR	-
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	0.06
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

6550C>T

p.R2108C

0.001

2 - Likely not pathogenic or of little 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

0.06

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