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NM_000642.3(AGL):c.442del (p.Arg148fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Jan 11, 2016
Accession:
VCV000370318.1
Variation ID:
370318
Description:
1bp deletion
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NM_000642.3(AGL):c.442del (p.Arg148fs)

Allele ID
357197
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99862405 (GRCh38) GRCh38 UCSC
1: 100327961 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100327961del
NC_000001.11:g.99862405del
NG_012865.1:g.17322del
... more HGVS
Protein change
R148fs, R132fs
Other names
-
Canonical SPDI
NC_000001.11:99862404:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16040826
dbSNP: rs1057516397
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 11, 2016 RCV000412473.1
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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
1284 1299

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 11, 2016)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Allele origin: unknown
Counsyl
Accession: SCV000485588.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)

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
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. Lucchiari S Human mutation 2006 PMID: 16705713

Text-mined citations for rs1057516397...

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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