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NM_033064.5(ATCAY):c.*1427A>T

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000329182.1
Variation ID:
329182
Description:
single nucleotide variant
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NM_033064.5(ATCAY):c.*1427A>T

Allele ID
349824
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.3
Genomic location
19: 3926019 (GRCh38) GRCh38 UCSC
19: 3926017 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.3926019A>T
NC_000019.9:g.3926017A>T
NM_033064.5:c.*1427A>T 3 prime UTR
NG_012638.1:g.50400A>T
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00077
1000 Genomes Project 0.00140
Links
ClinGen: CA10652444
dbSNP: rs536842684
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000269357.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATCAY - - GRCh38
GRCh37
90 112

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cerebellar Ataxia, Cayman type
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000413096.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019