ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Sep 23, 2020
- Most recent Submission:
- Sep 23, 2020
- Last evaluated:
- Nov 1, 2009
- Accession:
- VCV000001107.2
- Variation ID:
- 1107
- Description:
- single nucleotide variant
Help
NM_000642.3(AGL):c.3439A>G (p.Arg1147Gly)
- Allele ID
- 16146
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 1p21.2
- Genomic location
- 1: 99900712 (GRCh38) GRCh38 UCSC
- 1: 100366268 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000642.3:c.3439A>G MANE Select NP_000633.2:p.Arg1147Gly missense NM_000028.2:c.3439A>G NP_000019.2:p.Arg1147Gly missense NM_000643.2:c.3439A>G NP_000634.2:p.Arg1147Gly missense NM_000644.2:c.3439A>G NP_000635.2:p.Arg1147Gly missense NM_000646.2:c.3391A>G NP_000637.2:p.Arg1131Gly missense NC_000001.11:g.99900712A>G NC_000001.10:g.100366268A>G NG_012865.1:g.55629A>G - Protein change
- R1147G, R1131G
- Other names
- -
- Canonical SPDI
- NC_000001.11:99900711:A:G
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA114767
- OMIM: 610860.0014
- dbSNP: rs267606639
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Nov 1, 2009 | RCV000001166.4 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Nov 01, 2009)
|
no assertion criteria provided
Method: literature only
|
GLYCOGEN STORAGE DISEASE, TYPE IIIc
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000021316.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 23, 2020 |
Comment on evidence:
In a 14-year-old Turkish girl with isolated glucosidase deficiency, known as glycogen storage disease type IIIc (GSD3C; 232400), Aoyama et al. (2009) identified a homozygous … (more)
In a 14-year-old Turkish girl with isolated glucosidase deficiency, known as glycogen storage disease type IIIc (GSD3C; 232400), Aoyama et al. (2009) identified a homozygous 3439A-G transition in exon 27 of the AGL gene, resulting in an arg1147-to-gly (R1147G) substitution in a conserved residue in the C-terminal region. The patient had mild hepatomegaly, but did not have hypoglycemia or clinical muscle involvement. Cheng et al. (2009) showed that the R1147G-mutant protein lost glucosidase activity, but retained 40% of transferase activity compared to wildtype. (less)
|
Functional evidence
Help| 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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. | Aoyama Y | Journal of human genetics | 2009 | PMID: 19834502 |
| 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 |
Text-mined citations for rs267606639...
HelpThese 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 Apr 25, 2022