NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) AND Severe early-childhood-onset retinal dystrophy

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jan 1, 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:: RCV000408496.3

Allele description [Variation Report for NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)]

NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)

Gene:

ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)

Other names:

NP_000341.2:p.(Glu1022Lys)

HGVS:

NC_000001.11:g.94043462C>T
NG_009073.1:g.82688G>A
NG_009073.2:g.82686G>A
NM_000350.3:c.3064G>AMANE SELECT
NM_001425324.1:c.2842G>A
NP_000341.2:p.Glu1022Lys
NP_001412253.1:p.Glu948Lys
NC_000001.10:g.94509018C>T
NM_000350.2:c.3064G>A
P78363:p.Glu1022Lys

Protein change:

E1022K

Links:

UniProtKB: P78363#VAR_012555; dbSNP: rs61749459

NCBI 1000 Genomes Browser:

rs61749459

Molecular consequence:

NM_000350.3:c.3064G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001425324.1:c.2842G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Severe early-childhood-onset retinal dystrophy (STGD1)
Synonyms:: MACULAR DYSTROPHY WITH FLECKS, TYPE 1; STGD; Stargardt macular dystrophy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009549; MeSH: D000080362; MedGen: C1855465; Orphanet: 827; OMIM: 248200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000281858	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (Schulz et al. (Invest Ophthalmol Vis Sci. 2017))	Likely pathogenic (Jan 1, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11702214, 28118664
SCV000598958	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Likely pathogenic (Jan 1, 2015)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 11702214, 28041643

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000281858

Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

criteria provided, single submitter

(Schulz et al. (Invest Ophthalmol Vis Sci. 2017))

Likely pathogenic
(Jan 1, 2016)

germline

clinical testing

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

SCV000598958

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Likely pathogenic
(Jan 1, 2015)

unknown

research

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	yes	1	not provided	not provided	335	not provided	clinical testing
South East Asian	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Schulz HL, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936.

PubMed [citation]

PMID:: 28118664
PMCID:: PMC5270621

Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.

Fumagalli A, Ferrari M, Soriani N, Gessi A, Foglieni B, Martina E, Manitto MP, Brancato R, Dean M, Allikmets R, Cremonesi L.

Hum Genet. 2001 Sep;109(3):326-38.

PubMed [citation]

PMID:: 11702214

See all PubMed Citations (3)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV000281858.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	yes	335	not provided	not provided		1	not provided	not provided	not provided

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598958.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South East Asian	1	not provided	not provided	research	PubMed (2)

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

Last Updated: Jun 23, 2024

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