NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) AND 3-Methylglutaconic aciduria type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 22, 2018
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:: RCV000819778.4

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)]

NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)

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.697C>T (p.Gln233Ter)

HGVS:

NC_000023.11:g.154420262C>T
NG_009634.2:g.13728C>T
NM_000116.5:c.697C>TMANE SELECT
NM_001303465.2:c.709C>T
NM_181311.4:c.607C>T
NM_181312.4:c.655C>T
NM_181313.4:c.565C>T
NP_000107.1:p.Gln233Ter
NP_001290394.1:p.Gln237Ter
NP_851828.1:p.Gln203Ter
NP_851829.1:p.Gln219Ter
NP_851830.1:p.Gln189Ter
LRG_131t1:c.697C>T
LRG_131:g.13728C>T
LRG_131p1:p.Gln233Ter
NC_000023.10:g.153648601C>T
NG_009634.1:g.13725C>T
NM_000116.4:c.697C>T
NR_024048.3:n.1018C>T

Protein change:

Q189*

Links:

dbSNP: rs1603381860

NCBI 1000 Genomes Browser:

rs1603381860

Molecular consequence:

NR_024048.3:n.1018C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000116.5:c.697C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001303465.2:c.709C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_181311.4:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_181312.4:c.655C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_181313.4:c.565C>T - nonsense - [Sequence Ontology: SO:0001587]

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

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Rattus norvegicus Rho GTPase activating protein 24, mRNA (cDNA clone MGC:93797 I...
Rattus norvegicus Rho GTPase activating protein 24, mRNA (cDNA clone MGC:93797 IMAGE:7109913), complete cds
gi|55249718|gb|BC085797.1|

Nucleotide
AHCTF1 AT-hook containing transcription factor 1 [Gallus gallus]
AHCTF1 AT-hook containing transcription factor 1 [Gallus gallus]
Gene ID:421484

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000960458	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 22, 2018)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 16427346, 22382802, 23409742, 9345098, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000960458

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 22, 2018)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.

Xing Y, Ichida F, Matsuoka T, Isobe T, Ikemoto Y, Higaki T, Tsuji T, Haneda N, Kuwabara A, Chen R, Futatani T, Tsubata S, Watanabe S, Watanabe K, Hirono K, Uese K, Miyawaki T, Bowles KR, Bowles NE, Towbin JA.

Mol Genet Metab. 2006 May;88(1):71-7. Epub 2006 Jan 19.

PubMed [citation]

PMID:: 16427346

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

Aradhya S, Lewis R, Bonaga T, Nwokekeh N, Stafford A, Boggs B, Hruska K, Smaoui N, Compton JG, Richard G, Suchy S.

Genet Med. 2012 Jun;14(6):594-603. doi: 10.1038/gim.2011.65. Epub 2012 Mar 1.

PubMed [citation]

PMID:: 22382802

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000960458.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TAZ are known to be pathogenic (PMID: 16427346, 22382802, 23409742). This variant has been observed in an individual affected with Barth syndrome (PMID: 9345098). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln233*) in the TAZ gene. It is expected to result in an absent or disrupted protein product.

#	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: Oct 8, 2024

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