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

Variant data
Allele	Unknown
Reported pathogenicity	-
Concluded pathogenicity	-
Exon	2
DNA change	c.3G>A
BIC DNA change	231G>A
Protein change	p.M1I
Posterior P	0.999735509
IARC Class	5 - Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	-
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.96
Segregation LR	67.62110446
Pathology LR	2.172628915
Sum Family LR	-
Co-occurrence LR	1.072
case-control LR	-
Product of LRs	157.4934876
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

0.999735509

5 - Pathogenic

Parsons et al 2019

0.02

0.96

67.62110446

2.172628915

1.072

157.4934876

Translation initiation methionine site

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