NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu) AND 3-Methylglutaconic aciduria type 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 23, 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:: RCV003623270.1

Allele description

NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)

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.584G>A (p.Gly195Glu)

HGVS:

NC_000023.11:g.154420032G>A
NG_009634.2:g.13498G>A
NG_147842.1:g.545G>A
NG_147843.1:g.43G>A
NM_000116.5:c.584G>AMANE SELECT
NM_001303465.2:c.596G>A
NM_001410698.1:c.548G>A
NM_181311.4:c.494G>A
NM_181312.4:c.542G>A
NM_181313.4:c.452G>A
NP_000107.1:p.Gly195Glu
NP_001290394.1:p.Gly199Glu
NP_001397627.1:p.Gly183Glu
NP_851828.1:p.Gly165Glu
NP_851829.1:p.Gly181Glu
NP_851830.1:p.Gly151Glu
LRG_131t1:c.584G>A
LRG_131:g.13498G>A
LRG_131p1:p.Gly195Glu
NC_000023.10:g.153648371G>A
NR_024048.3:n.905G>A

Protein change:

G151E

Molecular consequence:

NM_000116.5:c.584G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001303465.2:c.596G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001410698.1:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181311.4:c.494G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181312.4:c.542G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181313.4:c.452G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_024048.3:n.905G>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004451828	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 23, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004451828

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 23, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Invitae, SCV004451828.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with TAZ-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 195 of the TAZ protein (p.Gly195Glu).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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