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NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 31, 2012
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:
RCV000183908.1

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)]

NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)

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.582G>A (p.Trp194Ter)
Other names:
p.W194*:TGG>TGA
HGVS:
  • NC_000023.11:g.154419745G>A
  • NG_009634.2:g.13211G>A
  • NM_000116.5:c.582G>AMANE SELECT
  • NM_001303465.2:c.595+122G>A
  • NM_181311.4:c.492G>A
  • NM_181312.4:c.541+122G>A
  • NM_181313.4:c.451+122G>A
  • NP_000107.1:p.Trp194Ter
  • NP_851828.1:p.Trp164Ter
  • LRG_131t1:c.582G>A
  • LRG_131:g.13211G>A
  • LRG_131p1:p.Trp194Ter
  • NC_000023.10:g.153648084G>A
  • NG_009634.1:g.13208G>A
  • NM_000116.3:c.582G>A
  • NM_181312.2:c.541+122G>A
  • NR_024048.3:n.903G>A
Protein change:
W164*
Links:
dbSNP: rs794729167
NCBI 1000 Genomes Browser:
rs794729167
Molecular consequence:
  • NM_001303465.2:c.595+122G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181312.4:c.541+122G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181313.4:c.451+122G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_024048.3:n.903G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000116.5:c.582G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181311.4:c.492G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000236394GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 31, 2012) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000236394.9

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

Description

p.Trp194Stop (TGG>TGA): c.582 G>A in exon 7 of the TAZ gene (NM_000116.3). The W194X nonsense mutation in the TAZ gene is predicted to cause loss of normal protein function either through premature protein truncation or nonsense-mediated mRNA decay. Mutations in the TAZ gene have been associated with Barth syndrome, 3-methylglutaconic aciduria type II, and TAZ--related dilated cardiomyopathy (Johnston et al., 1997; Wortmann et al., 2010). Although this mutation has not been reported previously to our knowledge, it is consistent with a diagnosis of a TAZ-related disorder. The variant is found in MGA-MITOP panel(s).

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

Last Updated: Sep 29, 2024