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	2
DNA change	c.3G>A
BIC DNA change	231G>A
Protein change	p.M1I
Posterior P	0.981
IARC Class	4 - Likely pathogenic
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	0.02
Other Prior P	0.00
Combined prior P	0.96
Segregation LR	2.0
Pathology LR	-
Sum Family LR	-
Co-occurrence LR	1.07
case-control LR	-
Product of LRs	2.14
Comments	Translation initiation methionine site

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

231G>A

p.M1I

0.981

4 - Likely pathogenic

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

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

0.02

0.00

0.96

2.0

1.07

2.14

Translation initiation methionine site

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