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NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met) AND 3-Methylglutaconic aciduria type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 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:
RCV003486392.1

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)]

NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)

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.705C>G (p.Ile235Met)
HGVS:
  • NC_000023.11:g.154420663C>G
  • NG_009634.2:g.14129C>G
  • NG_147843.1:g.674C>G
  • NM_000116.5:c.705C>GMANE SELECT
  • NM_001303465.2:c.717C>G
  • NM_001410698.1:c.669C>G
  • NM_181311.4:c.615C>G
  • NM_181312.4:c.663C>G
  • NM_181313.4:c.573C>G
  • NP_000107.1:p.Ile235Met
  • NP_001290394.1:p.Ile239Met
  • NP_001397627.1:p.Ile223Met
  • NP_851828.1:p.Ile205Met
  • NP_851829.1:p.Ile221Met
  • NP_851830.1:p.Ile191Met
  • LRG_131t1:c.705C>G
  • LRG_131:g.14129C>G
  • LRG_131p1:p.Ile235Met
  • NC_000023.10:g.153649002C>G
  • NM_000116.4:c.705C>G
  • NR_024048.3:n.1026C>G
Protein change:
I191M
Molecular consequence:
  • NM_000116.5:c.705C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303465.2:c.717C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410698.1:c.669C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181311.4:c.615C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181312.4:c.663C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181313.4:c.573C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024048.3:n.1026C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004239097Johns Hopkins Genomics, Johns Hopkins University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 27, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.

Garlid AO, Schaffer CT, Kim J, Bhatt H, Guevara-Gonzalez V, Ping P.

Gene. 2020 Feb 5;726:144148. doi: 10.1016/j.gene.2019.144148. Epub 2019 Oct 21. Review.

PubMed [citation]
PMID:
31647997
PMCID:
PMC7646589

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV004239097.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This TAFAZZIN missense variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging, and the isoleucine residue at this position is evolutionarily conserved across most of the species assessed. We consider the clinical significance of c.705C>G in TAFAZZIN to be uncertain at this time.

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

Last Updated: Feb 14, 2024