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	10
DNA change	c.1514T>C
BIC DNA change	1742T>C
Protein change	p.I505T
Posterior P	0.004
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	0.16
Pathology LR	1.2
Sum Family LR	-
Co-occurrence LR	-
case-control LR	-
Product of LRs	0.19
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

1742T>C

p.I505T

0.004

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

0.16

1.2

0.19

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