U.S. flag

An official website of the United States government

NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) AND 3-Methylglutaconic aciduria type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 5, 2016
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:
RCV000230961.4

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)]

NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)

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.583G>A (p.Gly195Arg)
HGVS:
  • NC_000023.11:g.154419746G>A
  • NG_009634.2:g.13212G>A
  • NM_000116.5:c.583G>AMANE SELECT
  • NM_001303465.2:c.595+123G>A
  • NM_181311.4:c.493G>A
  • NM_181312.4:c.541+123G>A
  • NM_181313.4:c.451+123G>A
  • NP_000107.1:p.Gly195Arg
  • NP_851828.1:p.Gly165Arg
  • LRG_131t1:c.583G>A
  • LRG_131:g.13212G>A
  • LRG_131p1:p.Gly195Arg
  • NC_000023.10:g.153648085G>A
  • NG_009634.1:g.13209G>A
  • NM_000116.3:c.583G>A
  • NR_024048.3:n.904G>A
Protein change:
G165R
Links:
dbSNP: rs878853656
NCBI 1000 Genomes Browser:
rs878853656
Molecular consequence:
  • NM_001303465.2:c.595+123G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181312.4:c.541+123G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181313.4:c.451+123G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000116.5:c.583G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181311.4:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024048.3:n.904G>A - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000283514Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 5, 2016) 		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

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]
PMID:
17576681
PMCID:
PMC1934990

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000283514.4

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

Description

In summary, this variant is a novel missense change with uncertain impact on protein function and splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Nucleotide substitutions at the last nucleotide of an exon are relatively common causes of aberrant splicing (PMID: 17576681), but according to multiple splice site algorithms, this variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TAZ-related disease. This sequence change replaces glycine with arginine at codon 195 of the TAZ protein (p.Gly195Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. It also falls at the last nucleotide of exon 7 of the TAZ coding sequence.

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

Last Updated: Sep 29, 2024