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NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) AND Retinal dystrophy

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Oct 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000504794.5

Allele description [Variation Report for NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)]

NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)

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.6088C>T (p.Arg2030Ter)
Other names:
NM_000350.3(ABCA4):c.6088C>T; p.Arg2030Ter; NP_000341.2:p.(Arg2030Ter)
HGVS:
  • NC_000001.11:g.94005500G>A
  • NG_009073.1:g.120650C>T
  • NG_009073.2:g.120648C>T
  • NM_000350.3:c.6088C>TMANE SELECT
  • NM_001425324.1:c.5866C>T
  • NP_000341.2:p.Arg2030Ter
  • NP_001412253.1:p.Arg1956Ter
  • NC_000001.10:g.94471056G>A
  • NM_000350.2:c.6088C>T
Protein change:
R1956*; ARG2030TER
Links:
OMIM: 601691.0029; dbSNP: rs61751383
NCBI 1000 Genomes Browser:
rs61751383
Molecular consequence:
  • NM_000350.3:c.6088C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001425324.1:c.5866C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599007NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Pathogenic
(Jan 1, 2015) 		unknownresearch

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

SCV001241286Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Pathogenic
(Mar 7, 2019) 		germlineclinical testing

Citation Link,

SCV004706448Dept Of Ophthalmology, Nagoya University
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Oct 1, 2023) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, research
Europeanunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M.

Am J Hum Genet. 1999 Feb;64(2):422-34.

PubMed [citation]
PMID:
9973280
PMCID:
PMC1377752

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, SCV000599007.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

From Blueprint Genetics, SCV001241286.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Dept Of Ophthalmology, Nagoya University, SCV004706448.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024