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 (#0000159)
Disease	-
Reference	United States:Salt Lake City
Template	DNA
Technique	SEQ
Remarks	-
# Reported	1
Submitter	Sean V. Tavtigian

Variant data
Allele	Unknown
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
Exon	7
DNA change	c.380G>A
BIC DNA change	499G>A
Protein change	p.S127N
Posterior P	0.1645
IARC Class	3 - Uncertain
Key Observational Reference	Spearman et al. 2008
Prior P reference	Tavtigian et al. 2008
Missense analysis Prior P	0.02
Splicing prior P	0.01
Other Prior P	0.00
Combined prior P	0.02
Segregation LR	-
Pathology LR	-
Sum Family LR	9.65
Co-occurrence LR	-
case-control LR	-
Product of LRs	9.65
Comments	-
DB-ID	BRCA1_00103

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

7

499G>A

p.S127N

0.1645

3 - Uncertain

Spearman et al. 2008

Tavtigian et al. 2008

0.02

0.01

0.00

0.02

-

-

9.65

-

-

9.65

-

BRCA1_00103