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NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) AND Retinal dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2020
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:
RCV004815092.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)]

NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)

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.286A>G (p.Asn96Asp)
HGVS:
  • NC_000001.11:g.94111454T>C
  • NG_009073.1:g.14696A>G
  • NG_009073.2:g.14694A>G
  • NM_000350.3:c.286A>GMANE SELECT
  • NM_001425324.1:c.286A>G
  • NP_000341.2:p.Asn96Asp
  • NP_001412253.1:p.Asn96Asp
  • NC_000001.10:g.94577010T>C
  • NM_000350.2:c.286A>G
  • P78363:p.Asn96Asp
Protein change:
N96D
Links:
UniProtKB: P78363#VAR_008403; dbSNP: rs61748529
NCBI 1000 Genomes Browser:
rs61748529
Molecular consequence:
  • NM_000350.3:c.286A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.286A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005071327Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2020) 		germlineclinical testing

PubMed (11)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

An analysis of ABCR mutations in British patients with recessive retinal dystrophies.

Papaioannou M, Ocaka L, Bessant D, Lois N, Bird A, Payne A, Bhattacharya S.

Invest Ophthalmol Vis Sci. 2000 Jan;41(1):16-9.

PubMed [citation]
PMID:
10634594

Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

Duncker T, Tsang SH, Lee W, Zernant J, Allikmets R, Delori FC, Sparrow JR.

Ophthalmology. 2015 Feb;122(2):345-55. doi: 10.1016/j.ophtha.2014.08.017. Epub 2014 Oct 3.

PubMed [citation]
PMID:
25283059
PMCID:
PMC4306619
See all PubMed Citations (11)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005071327.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (11)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 25, 2025