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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029843OMIM
no assertion criteria provided
Pathogenic
(Sep 21, 2010) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

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

Last Updated: Oct 14, 2023