NM_001698.3(AUH):c.516dup (p.Val173fs) AND 3-methylglutaconic aciduria type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 7, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003620596.1

Allele description [Variation Report for NM_001698.3(AUH):c.516dup (p.Val173fs)]

NM_001698.3(AUH):c.516dup (p.Val173fs)

Gene:

AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9q22.31

Genomic location:

Preferred name:

NM_001698.3(AUH):c.516dup (p.Val173fs)

HGVS:

NC_000009.12:g.91298066dup
NG_008017.1:g.68859dup
NM_001306190.2:c.429dup
NM_001351431.2:c.189dup
NM_001351432.2:c.189dup
NM_001351433.2:c.189dup
NM_001698.3:c.516dupMANE SELECT
NP_001293119.1:p.Val144fs
NP_001338360.1:p.Val64fs
NP_001338361.1:p.Val64fs
NP_001338362.1:p.Val64fs
NP_001689.1:p.Val173Serfs
NP_001689.1:p.Val173fs
LRG_449t1:c.516dup
LRG_449:g.68859dup
LRG_449p1:p.Val173Serfs
NC_000009.11:g.94060347_94060348insT
NC_000009.11:g.94060348dup
NM_001698.2:c.516dup

Protein change:

V144fs

Molecular consequence:

NM_001306190.2:c.429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351431.2:c.189dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351432.2:c.189dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351433.2:c.189dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001698.3:c.516dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: 3-methylglutaconic aciduria type 1
Synonyms:: 3 methylglutaconic aciduria type I; MGA type I; 3 alpha methylglutaconic aciduria type I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009610; MedGen: C0342727; Orphanet: 67046; OMIM: 250950

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004399383	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 7, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12655555, 20882351, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004399383

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 7, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

Ly TB, Peters V, Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M, Zschocke J.

Hum Mutat. 2003 Apr;21(4):401-7.

PubMed [citation]

PMID:: 12655555

The 3-methylglutaconic acidurias: what's new?

Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E.

J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. Review.

PubMed [citation]

PMID:: 20882351
PMCID:: PMC3249181

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004399383.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Val173Serfs*17) in the AUH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AUH are known to be pathogenic (PMID: 12655555, 20882351). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AUH-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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