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NM_000116.5(TAFAZZIN):c.238+2T>G AND 3-Methylglutaconic aciduria type 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 18, 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:
RCV003237291.1

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.238+2T>G]

NM_000116.5(TAFAZZIN):c.238+2T>G

Gene:
TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000116.5(TAFAZZIN):c.238+2T>G
HGVS:
  • NC_000023.11:g.154412216T>G
  • NG_009634.2:g.5682T>G
  • NG_012884.2:g.4873A>C
  • NM_000116.5:c.238+2T>GMANE SELECT
  • NM_001303465.2:c.292+2T>G
  • NM_001410698.1:c.292+2T>G
  • NM_181311.4:c.238+2T>G
  • NM_181312.4:c.238+2T>G
  • NM_181313.4:c.238+2T>G
  • LRG_131t1:c.238+2T>G
  • LRG_131:g.5682T>G
  • NC_000023.10:g.153640553T>G
Molecular consequence:
  • NM_000116.5:c.238+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001303465.2:c.292+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001410698.1:c.292+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_181311.4:c.238+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_181312.4:c.238+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_181313.4:c.238+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
3

Condition(s)

Name:
3-Methylglutaconic aciduria type 2 (BTHS)
Synonyms:
Barth syndrome; 3-methylglutaconicaciduria type II; MGA type II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010543; MedGen: C0574083; Orphanet: 111; OMIM: 302060

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003935942Molecular Diagnostics Lab, Nemours Children's Health, Delaware
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Apr 18, 2023)
maternal, unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not providedclinical testing
not providedunknownno2not providednot provided2not providedclinical testing

Citations

PubMed

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R.

Am J Hum Genet. 1997 Nov;61(5):1053-8.

PubMed [citation]
PMID:
9345098
PMCID:
PMC1716030

Barth syndrome: TAZ gene mutations, mRNAs, and evolution.

Gonzalez IL.

Am J Med Genet A. 2005 May 1;134(4):409-14.

PubMed [citation]
PMID:
15793838
See all PubMed Citations (4)

Details of each submission

From Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV003935942.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000500853.3)
PubMed (4)
2not provided1not providednot providedclinical testing
(GTR000500853.3)
PubMed (4)
3not provided1not providednot providedclinical testing
(GTR000500853.3)
PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1bloodnot provided
(GTR000500853.3)
1not providednot providednot provided
2unknownno1bloodnot provided
(GTR000500853.3)
1not providednot providednot provided
3unknownno1bloodnot provided
(GTR000500853.3)
1not providednot providednot provided

Last Updated: Jul 1, 2023