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	Probably no pathogenicity
Exon	3
DNA change	c.134A>C
BIC DNA change	253A>C
Protein change	p.K45T
Posterior P	0.001772917
IARC Class	2 - Likely not pathogenic or of little clinical significance
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.03
Splicing prior P	0.04
Other Prior P	0.02
Combined prior P	0.04
Segregation LR	-
Pathology LR	-
Sum Family LR	0.038659242
Co-occurrence LR	1.102597599
case-control LR	-
Product of LRs	0.042625587
Comments	-
DB-ID	BRCA1_00221

1 entry in BRCA1

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

DB-ID

Unknown

253A>C

p.K45T

0.001772917

2 - Likely not pathogenic or of little clinical significance

Parsons et al 2019

0.03

0.04

0.02

0.04

0.038659242

1.102597599

0.042625587

BRCA1_00221

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