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 (#0001252)
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	-
Exon	18
DNA change	c.8023A>G
BIC DNA change	8251A>G
Protein change	p.I2675V
Posterior P	0.999651188
IARC Class	5 - Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.29
Splicing prior P	-
Other Prior P	0.02
Combined prior P	0.64
Segregation LR	605.1396929
Pathology LR	0.88
Sum Family LR	2.883498045
Co-occurrence LR	1.049836689
case-control LR	-
Product of LRs	1612.054499
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

18

8251A>G

p.I2675V

0.999651188

5 - Pathogenic

Parsons et al 2019

-

0.29

-

0.02

0.64

605.1396929

0.88

2.883498045

1.049836689

-

1612.054499

-