NM_000116.5(TAFAZZIN):c.541+13_541+28del AND 3-Methylglutaconic aciduria type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 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:: RCV003512756.1

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.541+13_541+28del]

NM_000116.5(TAFAZZIN):c.541+13_541+28del

Gene:

TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000116.5(TAFAZZIN):c.541+13_541+28del

HGVS:

NC_000023.11:g.154419636_154419651del
NG_009634.2:g.13102_13117del
NG_147842.1:g.149_164del
NM_000116.5:c.541+13_541+28delMANE SELECT
NM_001303465.2:c.595+13_595+28del
NM_001410698.1:c.505+13_505+28del
NM_181311.4:c.451+13_451+28del
NM_181312.4:c.541+13_541+28del
NM_181313.4:c.451+13_451+28del
LRG_131t1:c.541+13_541+28del
LRG_131:g.13102_13117del
NC_000023.10:g.153647975_153647990del

Molecular consequence:

NM_000116.5:c.541+13_541+28del - intron variant - [Sequence Ontology: SO:0001627]
NM_001303465.2:c.595+13_595+28del - intron variant - [Sequence Ontology: SO:0001627]
NM_001410698.1:c.505+13_505+28del - intron variant - [Sequence Ontology: SO:0001627]
NM_181311.4:c.451+13_451+28del - intron variant - [Sequence Ontology: SO:0001627]
NM_181312.4:c.541+13_541+28del - intron variant - [Sequence Ontology: SO:0001627]
NM_181313.4:c.451+13_451+28del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004336619	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 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

SCV004336619

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 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, SCV004336619.1

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

Description

This sequence change falls in intron 6 of the TAZ gene. It does not directly change the encoded amino acid sequence of the TAZ protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TAZ-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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.

#	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 20, 2024

ClinVar

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