NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) AND Severe early-childhood-onset retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2015
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:: RCV000504877.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)]

NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)

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.2560G>A (p.Ala854Thr)

HGVS:

NC_000001.11:g.94055138C>T
NG_009073.1:g.71012G>A
NG_009073.2:g.71010G>A
NM_000350.3:c.2560G>AMANE SELECT
NM_001425324.1:c.2338G>A
NP_000341.2:p.Ala854Thr
NP_001412253.1:p.Ala780Thr
NC_000001.10:g.94520694C>T
NM_000350.2:c.2560G>A
P78363:p.Ala854Thr

Protein change:

A780T

Links:

UniProtKB: P78363#VAR_012539; dbSNP: rs61749437

NCBI 1000 Genomes Browser:

rs61749437

Molecular consequence:

NM_000350.3:c.2560G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001425324.1:c.2338G>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
SCV000598950	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] 11328725, 28041643

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000598950

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
European	unknown	yes	1	not provided	not provided	1	not provided	research
South East Asian	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

An analysis of allelic variation in the ABCA4 gene.

Webster AR, Héon E, Lotery AJ, Vandenburgh K, Casavant TL, Oh KT, Beck G, Fishman GA, Lam BL, Levin A, Heckenlively JR, Jacobson SG, Weleber RG, Sheffield VC, Stone EM.

Invest Ophthalmol Vis Sci. 2001 May;42(6):1179-89.

PubMed [citation]

PMID:: 11328725

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]

PMID:: 28041643
PMCID:: PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598950.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	1	not provided	not provided	research	PubMed (2)
2	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
2	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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