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NM_000642.3(AGL):c.1375_1378del (p.Asn459fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 16, 2019
Accession:
VCV000939081.2
Variation ID:
939081
Description:
4bp deletion
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NM_000642.3(AGL):c.1375_1378del (p.Asn459fs)

Allele ID
930723
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
1p21.2
Genomic location
1: 99876549-99876552 (GRCh38) GRCh38 UCSC
1: 100342105-100342108 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100342105_100342108del
NC_000001.11:g.99876549_99876552del
NG_012865.1:g.31466_31469del
... more HGVS
Protein change
N459fs, N443fs
Other names
-
Canonical SPDI
NC_000001.11:99876548:AATG:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1651548991
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 May 16, 2019 RCV001208412.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AGL - - GRCh38
GRCh37
1284 1299

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 16, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Allele origin: germline
Invitae
Accession: SCV001379796.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Asn459Aspfs*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
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. Cheng A Human molecular genetics 2009 PMID: 19299494

Text-mined citations for rs1651548991...

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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