NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter) AND Stargardt disease 3

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jan 30, 2021
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:: RCV000005228.4

Allele description [Variation Report for NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)]

NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)

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.810C>G (p.Tyr270Ter)

HGVS:

NC_000006.12:g.79916743G>C
NG_009108.2:g.35856C>G
NM_022726.4:c.810C>GMANE SELECT
NP_073563.1:p.Tyr270Ter
NC_000006.11:g.80626460G>C
NG_009108.1:g.35856C>G
NM_022726.3:c.810C>G

Protein change:

Y270*; TYR270TER

Links:

OMIM: 605512.0004; dbSNP: rs104893946

NCBI 1000 Genomes Browser:

rs104893946

Molecular consequence:

NM_022726.4:c.810C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Stargardt disease 3
Synonyms:: MACULAR DYSTROPHY WITH FLECKS, TYPE 3; STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT
Identifiers:: MONDO: MONDO:0010819; MedGen: C1838644; Orphanet: 827; OMIM: 600110

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025406	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001548144	Institute of Medical Molecular Genetics, University of Zurich	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 30, 2021)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 33546218

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025406

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2004)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV001548144

Institute of Medical Molecular Genetics, University of Zurich

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 30, 2021)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.

Maugeri A, Meire F, Hoyng CB, Vink C, Van Regemorter N, Karan G, Yang Z, Cremers FP, Zhang K.

Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4263-7.

PubMed [citation]

PMID:: 15557430

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000025406.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Belgian family with Stargardt-like macular dystrophy (STGD3; 600110), Maugeri et al. (2004) identified a novel ELOVL4 mutation, a heterozygous 810C-G transversion in exon 6 of the ELOVL4 gene that resulted in a tyr270-to-ter (Y270X) premature protein termination. Although the wildtype ELOVL4 protein localized to the endoplasmic reticulum, mutant ELOVL4 was sequestered in an aggregate pattern in the cytoplasm.

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

From Institute of Medical Molecular Genetics, University of Zurich, SCV001548144.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Sep 29, 2024

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