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NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) AND ABCA4-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 29, 2024
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:
RCV004528093.2

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:
ABCA4-related disorder
Synonyms:
ABCA4-Related Disorders; ABCA4-related condition
Identifiers:
MedGen: CN239167

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004104692PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Aug 29, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004104692.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ABCA4 c.6088C>T variant is predicted to result in premature protein termination (p.Arg2030*). This variant has been reported many times in individuals with Stargardt disease (see for examples Lewis et al. 1999. PubMed ID: 9973280; Pozo et al. 2014. PubMed ID: 25544989; Table S4 in Jiang et al. 2016. PubMed ID: 26780318; Table S2 in Del Pozo-Valero et al. 2022. PubMed ID: 35119454). This variant is reported in 0.013% of alleles in individuals of South Asian descent in gnomAD. Nonsense variants in ABCA4 are expected to be pathogenic. Given the evidence, we interpret c.6088C>T (p.Arg2030*) as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024