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NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Jan 30, 2021
Accession:
VCV000099096.7
Variation ID:
99096
Description:
single nucleotide variant
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NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)

Allele ID
104985
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p22.1
Genomic location
1: 94062611 (GRCh38) GRCh38 UCSC
1: 94528167 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.94528167G>A
NC_000001.11:g.94062611G>A
NG_009073.1:g.63539C>T
NM_000350.3:c.1903C>T MANE Select NP_000341.2:p.Gln635Ter nonsense
Protein change
Q635*
Other names
-
Canonical SPDI
NC_000001.11:94062610:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA226949
dbSNP: rs61749414
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 30, 2021 RCV000408491.2
Pathogenic 2 criteria provided, single submitter May 1, 2018 RCV000085440.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCA4 - - GRCh38
GRCh37
1992 2022

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Stargardt disease 1
Allele origin: germline
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg
Accession: SCV000281835.2
Submitted: (May 25, 2016)
Evidence details
Publications
PubMed (3)
Pathogenic
(May 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001245787.5
Submitted: (Jul 04, 2021)
Evidence details
Likely pathogenic
(Jan 30, 2021)
criteria provided, single submitter
Method: clinical testing
Stargardt disease 1
Allele origin: unknown
Institute of Medical Molecular Genetics, University of Zurich
Accession: SCV001548025.1
Submitted: (Mar 19, 2021)
Evidence details
Publications
PubMed (1)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Retina International
Accession: SCV000117577.1
Submitted: (Dec 20, 2012)
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_ABCR:c.1903C>T
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. Maggi J International journal of molecular sciences 2021 PMID: 33546218
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. Schulz HL Investigative ophthalmology & visual science 2017 PMID: 28118664
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Xiong HY Science (New York, N.Y.) 2015 PMID: 25525159
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Rivera A American journal of human genetics 2000 PMID: 10958763

Text-mined citations for rs61749414...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 07, 2021