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.53T>C
BIC DNA change	172T>C
Protein change	p.M18T
Posterior P	0.9840
IARC Class	4 - Likely pathogenic
Key Observational Reference	Easton et al. 2007 (PMID17924331)
Prior P reference	Tavtigian et al. 2008
Missense analysis Prior P	0.66
Splicing prior P	0.01
Other Prior P	0.00
Combined prior P	0.66
Segregation LR	1
Pathology LR	-
Sum Family LR	25.7
Co-occurrence LR	1.23
case-control LR	-
Product of LRs	31.611
Comments	-
DB-ID	BRCA1_00040

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

172T>C

p.M18T

0.9840

4 - Likely pathogenic

Easton et al. 2007 (PMID17924331)

0.66

0.01

0.00

0.66

25.7

1.23

31.611

BRCA1_00040

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