U.S. flag

An official website of the United States government

NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter) AND 3-Methylglutaconic aciduria type 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 7, 2020
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:
RCV003237272.1

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)]

NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)

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.163G>T (p.Glu55Ter)
HGVS:
  • NC_000023.11:g.154412139G>T
  • NG_009634.2:g.5605G>T
  • NG_012884.2:g.4950C>A
  • NG_203283.1:g.714G>T
  • NM_000116.5:c.163G>TMANE SELECT
  • NM_001303465.2:c.217G>T
  • NM_001410698.1:c.217G>T
  • NM_181311.4:c.163G>T
  • NM_181312.4:c.163G>T
  • NM_181313.4:c.163G>T
  • NP_000107.1:p.Glu55Ter
  • NP_001290394.1:p.Glu73Ter
  • NP_001397627.1:p.Glu73Ter
  • NP_851828.1:p.Glu55Ter
  • NP_851829.1:p.Glu55Ter
  • NP_851830.1:p.Glu55Ter
  • LRG_131t1:c.163G>T
  • LRG_131:g.5605G>T
  • LRG_131p1:p.Glu55Ter
  • NC_000023.10:g.153640476G>T
  • NR_024048.3:n.468G>T
Protein change:
E55*
Molecular consequence:
  • NR_024048.3:n.468G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000116.5:c.163G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001303465.2:c.217G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001410698.1:c.217G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181311.4:c.163G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181312.4:c.163G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181313.4:c.163G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
5

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
SCV003935909Molecular Diagnostics Lab, Nemours Children's Health, Delaware
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 7, 2020) 		maternal, unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not providedclinical testing
not providedmaternalno1not providednot provided1not providedclinical testing
not providedunknownno3not providednot provided3not providedclinical testing

Citations

PubMed

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 Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV003935909.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000500853.3)		 PubMed (1)
2not provided1not providednot providedclinical testing
(GTR000500853.3)		 PubMed (1)
3not provided1not providednot providedclinical testing
(GTR000500853.3)		 PubMed (1)
4not provided1not providednot providedclinical testing
(GTR000500853.3)		 PubMed (1)
5not provided1not providednot providedclinical testing
(GTR000500853.3)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1bloodnot provided
(GTR000500853.3)		1not providednot providednot provided
2maternalno1bloodnot provided
(GTR000500853.3)		1not providednot providednot provided
3unknownno1bloodnot provided
(GTR000500853.3)		1not providednot providednot provided
4unknownno1bloodnot provided
(GTR000500853.3)		1not providednot providednot provided
5unknownno1bloodnot provided
(GTR000500853.3)		1not providednot providednot provided

Last Updated: Jul 1, 2023