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 (#0001258)
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	5
DNA change	c.473C>T
BIC DNA change	701C>T
Protein change	p.S158L
Posterior P	0.537103686
IARC Class	3 - Uncertain
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	-
Pathology LR	-
Sum Family LR	1.766162686
Co-occurrence LR	1.275289324
case-control LR	-
Product of LRs	2.252368419
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

5

701C>T

p.S158L

0.537103686

3 - Uncertain

Parsons et al 2019

-

0.02

0.34

0.02

0.34

-

-

1.766162686

1.275289324

-

2.252368419

-