NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) AND Severe early-childhood-onset retinal dystrophy

Germline classification:: Pathogenic (1 submission)
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:: RCV000408564.2

Allele description [Variation Report for NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)]

NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)

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.3085C>T (p.Gln1029Ter)

HGVS:

NC_000001.11:g.94043441G>A
NG_009073.1:g.82709C>T
NG_009073.2:g.82707C>T
NM_000350.3:c.3085C>TMANE SELECT
NM_001425324.1:c.2863C>T
NP_000341.2:p.Gln1029Ter
NP_001412253.1:p.Gln955Ter
NC_000001.10:g.94508997G>A
NM_000350.2:c.3085C>T

Protein change:

Q1029*

Links:

dbSNP: rs61751397

NCBI 1000 Genomes Browser:

rs61751397

Molecular consequence:

NM_000350.3:c.3085C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001425324.1:c.2863C>T - nonsense - [Sequence Ontology: SO:0001587]

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

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
SCV000281859	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (Schulz et al. (Invest Ophthalmol Vis Sci. 2017))	Pathogenic (Jan 1, 2016)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 12037008, 22264887, 25525159, 28118664

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000281859

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

criteria provided, single submitter

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

Pathogenic
(Jan 1, 2016)

germline

clinical testing

PubMed (4)
[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

Citations

PubMed

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

Klevering BJ, Blankenagel A, Maugeri A, Cremers FP, Hoyng CB, Rohrschneider K.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1980-5.

PubMed [citation]

PMID:: 12037008

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium., Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ.

Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20.

PubMed [citation]

PMID:: 22264887

See all PubMed Citations (4)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV000281859.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

#	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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine