NM_001698.3(AUH):c.80del (p.Ser27fs) AND 3-methylglutaconic aciduria type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 21, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000009625.4

Allele description [Variation Report for NM_001698.3(AUH):c.80del (p.Ser27fs)]

NM_001698.3(AUH):c.80del (p.Ser27fs)

Genes:

LOC130002059:ATAC-STARR-seq lymphoblastoid silent region 20025 [Gene]
AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q22.31

Genomic location:

Preferred name:

NM_001698.3(AUH):c.80del (p.Ser27fs)

HGVS:

NC_000009.12:g.91361810del
NG_008017.1:g.5115del
NM_001306190.2:c.80del
NM_001351431.2:c.-318del
NM_001351432.2:c.-410del
NM_001351433.2:c.-318del
NM_001698.3:c.80delMANE SELECT
NP_001293119.1:p.Ser27fs
NP_001689.1:p.Ser27fs
NP_001689.1:p.Ser27fs
LRG_449t1:c.80del
LRG_449:g.5115del
LRG_449p1:p.Ser27fs
NC_000009.11:g.94124092del
NM_001698.2:c.80del

Protein change:

S27fs

Links:

OMIM: 600529.0003; dbSNP: rs730880310

NCBI 1000 Genomes Browser:

rs730880310

Molecular consequence:

NM_001351431.2:c.-318del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001351432.2:c.-410del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001351433.2:c.-318del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001306190.2:c.80del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001698.3:c.80del - 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
SCV000029843	OMIM	no assertion criteria provided	Pathogenic (Sep 21, 2010)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 10626578, 20855850, 12655555

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029843

OMIM

no assertion criteria provided

Pathogenic
(Sep 21, 2010)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.

Wiley V, Carpenter K, Wilcken B.

Acta Paediatr Suppl. 1999 Dec;88(432):48-51.

PubMed [citation]

PMID:: 10626578

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA.

Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a.

PubMed [citation]

PMID:: 20855850

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000029843.3

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

Description

In a boy born of first-cousin parents of Lebanese extraction who was found on newborn screening to have 3-methylglutaconic aciduria type I (MGCA1; 250950) (Wiley et al., 1999), Ly et al. (2003) identified a 1-bp deletion in exon 1 of the AUH gene, 80delG, that resulted in a frameshift mutation beginning at codon ser27. At 2.5 years of age he was healthy, with entirely normal growth and development. Ly et al. (2003) noted that his younger sister, likewise healthy, was found to have the same newborn screening findings indicative of the disorder.

Wortmann et al. (2010) provided follow-up of the Lebanese sibs reported by Ly et al. (2003). At ages 9 and 6.5 years, both had normal development and unremarkable physical examinations. Brain imaging was not performed.

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

Last Updated: Oct 14, 2023

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