NM_001698.2(AUH):c.730G>A (p.Asp244Asn) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000195704.3

Allele description [Variation Report for NM_001698.2(AUH):c.730G>A (p.Asp244Asn)]

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

Gene:
AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.31
Genomic location:
Preferred name:
NM_001698.2(AUH):c.730G>A (p.Asp244Asn)
Other names:
p.D244N:GAT>AAT
HGVS:
  • NC_000009.12:g.91220918C>T
  • NG_008017.1:g.146007G>A
  • NM_001306190.1:c.643G>A
  • NM_001351431.1:c.403G>A
  • NM_001351432.1:c.403G>A
  • NM_001351433.1:c.403G>A
  • NM_001698.2:c.730G>A
  • NP_001293119.1:p.Asp215Asn
  • NP_001338360.1:p.Asp135Asn
  • NP_001338361.1:p.Asp135Asn
  • NP_001338362.1:p.Asp135Asn
  • NP_001689.1:p.Asp244Asn
  • LRG_449t1:c.730G>A
  • LRG_449:g.146007G>A
  • LRG_449p1:p.Asp244Asn
  • NC_000009.11:g.93983200C>T
Protein change:
D135N
Links:
dbSNP: rs202182817
NCBI 1000 Genomes Browser:
rs202182817
Molecular consequence:
  • NM_001306190.1:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351431.1:c.403G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351432.1:c.403G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351433.1:c.403G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001698.2:c.730G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000251178GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 14, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000251178.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative as a negatively charged Aspartic Acid residue is replaced by an uncharged Asparagine residue. This change occurs at a position in the AUH protein that is conserved in mammals. A missense mutation at a nearby position (A240V) has been reported in association with 3-methylglutaconic aciduria type 1. In-silico analyses are not consistent in their predictions of whether or not D244N is damaging to the AUH protein. Therefore, based on the currently available information, it is unclear whether D244N is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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