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 (#0001293)
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	13
DNA change	c.7007G>A
BIC DNA change	7235G>A
Protein change	p.R2336H
Posterior P	0.999037077
IARC Class	5 - Pathogenic
Key Observational Reference	Parsons et al 2019
Prior P reference	-
Missense analysis Prior P	0.02
Splicing prior P	0.34
Other Prior P	0.02
Combined prior P	0.34
Segregation LR	48.56509477
Pathology LR	0.829557198
Sum Family LR	20.32975625
Co-occurrence LR	2.458964652
case-control LR	-
Product of LRs	2013.979446
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

13

7235G>A

p.R2336H

0.999037077

5 - Pathogenic

Parsons et al 2019

-

0.02

0.34

0.02

0.34

48.56509477

0.829557198

20.32975625

2.458964652

-

2013.979446

-