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NM_000116.5(TAFAZZIN):c.461-2A>G AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 7, 2015
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:
RCV000216671.1

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.461-2A>G]

NM_000116.5(TAFAZZIN):c.461-2A>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.461-2A>G
HGVS:
  • NC_000023.11:g.154419541A>G
  • NG_009634.2:g.13007A>G
  • NG_147842.1:g.54A>G
  • NM_000116.5:c.461-2A>GMANE SELECT
  • NM_001303465.2:c.515-2A>G
  • NM_001410698.1:c.425-2A>G
  • NM_181311.4:c.371-2A>G
  • NM_181312.4:c.461-2A>G
  • NM_181313.4:c.371-2A>G
  • LRG_131t1:c.461-2A>G
  • LRG_131:g.13007A>G
  • NC_000023.10:g.153647880A>G
  • NM_000116.3:c.461-2A>G
  • NM_181312.2:c.461-2A>G
Links:
dbSNP: rs876661038
NCBI 1000 Genomes Browser:
rs876661038
Molecular consequence:
  • NM_000116.5:c.461-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001303465.2:c.515-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001410698.1:c.425-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181311.4:c.371-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181312.4:c.461-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181313.4:c.371-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000279309GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 7, 2015) 		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, SCV000279309.8

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

Description

Although the c.461-2 A>G mutation has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this mutation destroys the canonical splice acceptor site in intron 5 and is predicted to cause abnormal gene splicing. The mutation is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the TAZ gene have been reported in HGMD in association with Barth syndrome (Stenson P et al., 2014). Furthermore, the c.461-2 A>G mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.461-2 A>G in the TAZ gene is interpreted as a disease-causing mutation.

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

Last Updated: Jul 1, 2023