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 1 susceptibility protein (BRCA1)

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

Patient data (#0001226)
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.5144G>A
BIC DNA change	5263G>A
Protein change	p.S1715N
Posterior P	0.999493668
IARC Class	5 - Pathogenic
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	57.86
Pathology LR	3.73
Sum Family LR	3.631450851
Co-occurrence LR	1.297514181
case-control LR	-
Product of LRs	1016.903038
Comments	-
DB-ID	BRCA1_00694

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

18

5263G>A

p.S1715N

0.999493668

5 - Pathogenic

Parsons et al 2019

-

0.66

-

0.02

0.66

57.86

3.73

3.631450851

1.297514181

-

1016.903038

-

BRCA1_00694