Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001698.2(AUH):c.730G>A (p.Asp244Asn)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 7, 2020
Accession:
VCV000214146.5
Variation ID:
214146
Description:
single nucleotide variant
Help

NM_001698.2(AUH):c.730G>A (p.Asp244Asn)

Allele ID
211402
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q22.31
Genomic location
9: 91220918 (GRCh38) GRCh38 UCSC
9: 93983200 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.93983200C>T
NC_000009.12:g.91220918C>T
NM_001306190.1:c.643G>A NP_001293119.1:p.Asp215Asn missense
... more HGVS
Protein change
D244N, D135N, D215N
Other names
p.D244N:GAT>AAT
Canonical SPDI
NC_000009.12:91220917:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00042
The Genome Aggregation Database (gnomAD), exomes 0.00043
Trans-Omics for Precision Medicine (TOPMed) 0.00053
The Genome Aggregation Database (gnomAD) 0.00022
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Links
ClinGen: CA320067
dbSNP: rs202182817
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Aug 7, 2020 RCV000766066.4
Uncertain significance 1 criteria provided, single submitter Sep 14, 2018 RCV000195704.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AUH - - GRCh38
GRCh37
115 143

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000251178.13
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Asp244Asn (GAT>AAT): c.730 G>A in exon 7 of the AUH gene (NM_001698.2). The D244N missense substitution has not been published as a mutation, nor has … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
3-Methylglutaconic aciduria type 1
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000897532.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Aug 07, 2020)
criteria provided, single submitter
Method: clinical testing
3-Methylglutaconic aciduria type 1
Allele origin: germline
Invitae
Accession: SCV000940696.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with asparagine at codon 244 of the AUH protein (p.Asp244Asn). The aspartic acid residue is moderately conserved and there … (more)

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs202182817...

Help
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 12, 2021