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

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

Breast Cancer Type 2 susceptibility protein (BRCA2)

LOVD v.2.0 Build 22 [ Current LOVD status ]
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Curators: Julie Boyle and HCI / Tavtigian Lab

Patient data (#0001992)
Disease	-
Reference	United States:Salt Lake City
Template	DNA
Technique	SEQ
Remarks	-
# Reported	1
Submitter	Tiana Francy

Variant data
Allele	Unknown
Reported pathogenicity	-
Concluded pathogenicity	Unknown
Exon	23
DNA change	c.9004G>A
BIC DNA change	9232G>A
Protein change	p.E3002K
Posterior P	0.936938571
IARC Class	3 - Uncertain
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.66
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.66
Segregation LR	30.26461
Pathology LR	0.41603205
Sum Family LR	0.347472426
Co-occurrence LR	1.749444114
case-control LR	-
Product of LRs	7.653891318
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

23

9232G>A

p.E3002K

0.936938571

3 - Uncertain

Parsons et al 2019

-

0.66

-

0.02

0.66

30.26461

0.41603205

0.347472426

1.749444114

-

7.653891318

-