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	3
DNA change	c.316+5G>A
BIC DNA change	IVS3+5G>A
Protein change	-
Posterior P	0.744
IARC Class	3 - Uncertain
Key Observational Reference	Thomassen M et al., Breast Cancer Res Treat. 2012 Apr, 132(3):1009-23.
Prior P reference	Vallee MP et al., Human Mutation 37: 627-639, 2016
Missense analysis Prior P	-
Splicing prior P	0.34
Other Prior P	0.00
Combined prior P	0.34
Segregation LR	3.16
Pathology LR	-
Sum Family LR	1.51
Co-occurrence LR	1.18
case-control LR	-
Product of LRs	5.64
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

IVS3+5G>A

0.744

3 - Uncertain

Thomassen M et al., Breast Cancer Res Treat. 2012 Apr, 132(3):1009-23.

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

0.34

0.00

0.34

3.16

1.51

1.18

5.64

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