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NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) AND Leber congenital amaurosis 14

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2023
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:
RCV003447472.2

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:
Leber congenital amaurosis 14 (LCA14)
Identifiers:
MONDO: MONDO:0013231; MedGen: C2750063; OMIM: 613341

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004175776Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 14, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004175776.1

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

Last Updated: Nov 10, 2024