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NM_000642.3(AGL):c.1611+6G>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Jun 17, 2019
Accession:
VCV000966022.1
Variation ID:
966022
Description:
single nucleotide variant
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NM_000642.3(AGL):c.1611+6G>A

Allele ID
960438
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99877834 (GRCh38) GRCh38 UCSC
1: 100343390 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100343390G>A
NC_000001.11:g.99877834G>A
NG_012865.1:g.32751G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:99877833:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
dbSNP: rs774806852
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 Jun 17, 2019 RCV001240606.1
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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
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001413571.1
Submitted: (Feb 06, 2020)
Comment:
This sequence change falls in intron 12 of the AGL gene. It does not directly change the encoded amino acid sequence of the AGL 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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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 rs774806852...

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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