NM_025114.4(CEP290):c.2484-18GTTTT[4] AND Leber congenital amaurosis

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 14, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000333193.8

Allele description [Variation Report for NM_025114.4(CEP290):c.2484-18GTTTT[4]]

NM_025114.4(CEP290):c.2484-18GTTTT[4]

Gene:

CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

12q21.32

Genomic location:

Preferred name:

NM_025114.4(CEP290):c.2484-18GTTTT[4]

HGVS:

NC_000012.12:g.88107106CAAAA[4]
NG_008417.2:g.40101GTTTT[4]
NM_025114.4:c.2484-18GTTTT[4]MANE SELECT
LRG_694t1:c.2484-18GTTTT[4]
LRG_694:g.40101GTTTT[4]
NC_000012.11:g.88500878_88500879insAAAAC
NC_000012.11:g.88500883CAAAA[4]
NG_008417.1:g.40101GTTTT[4]
NM_025114.3:c.2484-8_2484-4dupGTTTT
NM_025114.4:c.2484-8_2484-4dupGTTTTMANE SELECT

Links:

dbSNP: rs745522483

NCBI 1000 Genomes Browser:

rs745522483

Molecular consequence:

NM_025114.4:c.2484-18GTTTT[4] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Leber congenital amaurosis (LCA)
Synonyms:: Congenital retinal blindness; Leber's amaurosis
Identifiers:: MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000381546	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV001459785	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 17, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000381546

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV001459785

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 17, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000381546.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV001459785.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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