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	13
DNA change	c.7007+1G>C
BIC DNA change	IVS13+1G>C
Protein change	-
Posterior P	0.988
IARC Class	4 - Likely pathogenic
Key Observational Reference	Whiley et al., Human Mutation 32: 678-687, 2011
Prior P reference	Vallee MP et al., Human Mutation 37: 627-639, 2016
Missense analysis Prior P	-
Splicing prior P	0.97
Other Prior P	0.00
Combined prior P	0.97
Segregation LR	3.9
Pathology LR	-
Sum Family LR	0.56
Co-occurrence LR	1.12
case-control LR	-
Product of LRs	2.45
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

IVS13+1G>C

0.988

4 - Likely pathogenic

Whiley et al., Human Mutation 32: 678-687, 2011

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

0.97

0.00

0.97

3.9

0.56

1.12

2.45

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