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NM_000642.3(AGL):c.276del (p.Gln92fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 13, 2020)
Last evaluated:
Apr 24, 2020
Accession:
VCV000371401.2
Variation ID:
371401
Description:
1bp deletion
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NM_000642.3(AGL):c.276del (p.Gln92fs)

Allele ID
357191
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99861696 (GRCh38) GRCh38 UCSC
1: 100327252 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100327252del
NC_000001.11:g.99861696del
NG_012865.1:g.16613del
... more HGVS
Protein change
Q92fs, Q76fs
Other names
-
Canonical SPDI
NC_000001.11:99861695:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA16040822
dbSNP: rs1057517243
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Apr 24, 2020 RCV000409554.2
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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
(Sep 13, 2016)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Allele origin: unknown
Counsyl
Accession: SCV000486971.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (2)
Pathogenic
(Apr 24, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001338431.1
Submitted: (May 13, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: AGL c.276delG (p.Gln92HisfsX16) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the 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
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. Goldstein JL Genetics in medicine : official journal of the American College of Medical Genetics 2010 PMID: 20648714
Glycogen storage disease type III in the Irish population. Crushell E Journal of inherited metabolic disease 2010 PMID: 20490926
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area. Lucchiari S American journal of medical genetics 2002 PMID: 11977176

Text-mined citations for rs1057517243...

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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