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NM_000481.4(AMT):c.982dup (p.Ala328fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 25, 2018)
Last evaluated:
Dec 30, 2017
Accession:
VCV000554261.1
Variation ID:
554261
Description:
1bp duplication
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NM_000481.4(AMT):c.982dup (p.Ala328fs)

Allele ID
543236
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 49417868-49417869 (GRCh38) GRCh38 UCSC
3: 49455301-49455302 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001164710.2:c.850dup NP_001158182.1:p.Ala284fs frameshift
NM_001164711.2:c.814dup NP_001158183.1:p.Ala272fs frameshift
NM_001164712.2:c.982dup NP_001158184.1:p.Ala328fs frameshift
... more HGVS
Protein change
A328fs, A284fs, A272fs
Other names
-
Canonical SPDI
NC_000003.12:49417868:CCCCC:CCCCCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553638266
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 30, 2017 RCV000669862.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AMT - - GRCh38
GRCh37
267 315

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 10, 2017)
criteria provided, single submitter
Method: clinical testing
Non-ketotic hyperglycinemia
Allele origin: unknown
Counsyl
Accession: SCV000794654.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Dec 30, 2017)
criteria provided, single submitter
Method: curation
Non-ketotic hyperglycinemia
Allele origin: unknown
Department of Genetics,Sultan Qaboos University Hospital, Oman
Accession: SCV000891582.1
Submitted: (Oct 25, 2018)
Evidence details

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
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Coughlin CR 2nd Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 27362913

Text-mined citations for rs1553638266...

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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 Apr 08, 2021