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NM_000642.3(AGL):c.1533dup (p.Tyr512fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Aug 31, 2017
Accession:
VCV000526563.1
Variation ID:
526563
Description:
1bp duplication
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NM_000642.3(AGL):c.1533dup (p.Tyr512fs)

Allele ID
516121
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99877744-99877745 (GRCh38) GRCh38 UCSC
1: 100343300-100343301 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100343306dup
NC_000001.11:g.99877750dup
NG_012865.1:g.32667dup
... more HGVS
Protein change
Y512fs, Y496fs
Other names
-
Canonical SPDI
NC_000001.11:99877744:AAAAAA:AAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA966521
dbSNP: rs776733170
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 31, 2017 RCV000631124.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AGL - - GRCh38
GRCh37
1285 1300

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Aug 31, 2017)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000752119.1
Submitted: (Apr 02, 2018)
Publications:
PubMed (1)
PubMed: 20490926
Comment:
This sequence change creates a premature translational stop signal (p.Tyr512Ilefs*3) in the AGL gene. It is expected to result in an absent or disrupted protein … (more)

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
Glycogen storage disease type III in the Irish population. Crushell E Journal of inherited metabolic disease 2010 PMID: 20490926

Text-mined citations for rs776733170...

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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 Nov 27, 2021