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NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1
First in ClinVar:
Apr 1, 2019
Most recent Submission:
Feb 2, 2015
Last evaluated:
Dec 1, 2014
Accession:
VCV000018391.1
Variation ID:
18391
Description:
single nucleotide variant
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NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp)

Allele ID
33430
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p11.23
Genomic location
10: 30313926 (GRCh38) GRCh38 UCSC
10: 30602855 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_018109.4:c.1432A>G MANE Select NP_060579.3:p.Asn478Asp missense
NC_000010.11:g.30313926T>C
NC_000010.10:g.30602855T>C
... more HGVS
Protein change
N478D
Other names
-
Canonical SPDI
NC_000010.11:30313925:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA113782
UniProtKB: Q9NVV4#VAR_064907
OMIM: 613669.0001
dbSNP: rs267606900
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 2014 RCV000000002.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MTPAP - - GRCh38
GRCh37
177 192

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Dec 01, 2014)
no assertion criteria provided
Method: literature only
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (1 family)
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000020145.2
First in ClinVar: Apr 04, 2013
Last updated: Feb 02, 2015
Publications:
PubMed (2)
PubMed: 2097010525008111
Comment on evidence:
In 6 affected members of a large consanguineous family of Old Order Amish origin with spastic ataxia-4 (SPAX4; 613672), Crosby et al. (2010) identified a … (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
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression. Wilson WC Human molecular genetics 2014 PMID: 25008111
Defective mitochondrial mRNA maturation is associated with spastic ataxia. Crosby AH American journal of human genetics 2010 PMID: 20970105

Text-mined citations for rs267606900...

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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 24, 2022