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NM_000642.3(AGL):c.2181_2183del (p.Glu727del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 25, 2019
Accession:
VCV000946337.2
Variation ID:
946337
Description:
3bp deletion
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NM_000642.3(AGL):c.2181_2183del (p.Glu727del)

Allele ID
922191
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
1p21.2
Genomic location
1: 99881562-99881564 (GRCh38) GRCh38 UCSC
1: 100347118-100347120 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100347120_100347122del
NC_000001.11:g.99881564_99881566del
NG_012865.1:g.36481_36483del
... more HGVS
Protein change
E711del, E727del
Other names
-
Canonical SPDI
NC_000001.11:99881561:GAAGA:GA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1652029472
VarSome
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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 Apr 25, 2019 RCV001217183.1
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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
Uncertain significance
(Apr 25, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001389016.2
Submitted: (Jan 07, 2021)
Comment:
This variant, c.2181_2183del, results in the deletion of 1 amino acid(s) of the AGL protein (p.Glu727del), but otherwise preserves the integrity of the reading frame. … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1652029472...

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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