NM_022726.4(ELOVL4):c.289-2A>G AND Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 6, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000497810.1

Allele description [Variation Report for NM_022726.4(ELOVL4):c.289-2A>G]

NM_022726.4(ELOVL4):c.289-2A>G

Gene:

ELOVL4:ELOVL fatty acid elongase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_022726.4(ELOVL4):c.289-2A>G

HGVS:

NC_000006.12:g.79925034T>C
NG_009108.2:g.27565A>G
NM_022726.4:c.289-2A>GMANE SELECT
NC_000006.11:g.80634751T>C
NG_009108.1:g.27565A>G
NM_022726.3:c.289-2A>G

Links:

dbSNP: rs1554162524

NCBI 1000 Genomes Browser:

rs1554162524

Molecular consequence:

NM_022726.4:c.289-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

Condition(s)

Name:: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome (ISQMR)
Synonyms:: Ichthyosis, spastic quadriplegia, and mental retardation; ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT
Identifiers:: MONDO: MONDO:0013760; MedGen: C3280856; Orphanet: 352333; OMIM: 614457

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000586696	Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	no assertion criteria provided	Likely pathogenic (Jul 6, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000586696

Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

no assertion criteria provided

Likely pathogenic
(Jul 6, 2017)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hindu/ Karnataka	germline	no	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV000586696.1

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

Description

This variant has not been reported in 1000 Genomes and ExAC. However, this variant is been reported as damaging by Mutation Taster.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 19, 2024

ClinVar

Relating variation to medicine