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NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 25, 2020
Accession:
VCV001072510.1
Variation ID:
1072510
Description:
58bp insertion
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NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs)

Allele ID
1058895
Variant type
Insertion
Variant length
58 bp
Cytogenetic location
1p21.2
Genomic location
1: 99915468-99915469 (GRCh38) GRCh38 UCSC
1: 100381024-100381025 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100381041_100381042insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG
NC_000001.11:g.99915485_99915486insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG
NG_012865.1:g.70402_70403insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG
... more HGVS
Protein change
D1404fs, D1420fs
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Sep 25, 2020 RCV001385243.1
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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
Pathogenic
(Sep 25, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001585008.1
Submitted: (Jan 07, 2021)
Publications:
PubMed (4)
PubMed: 19763152203076692240601819299494
Comment:
This sequence change inserts a large fragment of DNA, likely a transposable element, in exon 31 of the AGL gene (c.4258_4259ins?), causing a frameshift at … (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
Active human retrotransposons: variation and disease. Hancks DC Current opinion in genetics & development 2012 PMID: 22406018
A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome. Konkel MK Seminars in cancer biology 2010 PMID: 20307669
The impact of retrotransposons on human genome evolution. Cordaux R Nature reviews. Genetics 2009 PMID: 19763152
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

Record last updated Nov 27, 2021