NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) AND 3-Methylglutaconic aciduria type 2

Clinical significance:Likely pathogenic (Last evaluated: Aug 7, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001283758.1

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)]

NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)

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.773C>A (p.Ser258Ter)
HGVS:
  • NC_000023.11:g.154420731C>A
  • NG_009634.1:g.14194C>A
  • NG_009634.2:g.14197C>A
  • NM_000116.5:c.773C>AMANE SELECT
  • NM_001303465.2:c.785C>A
  • NM_181311.4:c.683C>A
  • NM_181312.4:c.731C>A
  • NM_181313.4:c.641C>A
  • NP_000107.1:p.Ser258Ter
  • NP_001290394.1:p.Ser262Ter
  • NP_851828.1:p.Ser228Ter
  • NP_851829.1:p.Ser244Ter
  • NP_851830.1:p.Ser214Ter
  • LRG_131t1:c.773C>A
  • LRG_131:g.14197C>A
  • LRG_131p1:p.Ser258Ter
  • NC_000023.10:g.153649070C>A
  • NM_000116.3:c.773C>A
  • NR_024048.3:n.1094C>A
Protein change:
S214*
Molecular consequence:
  • NR_024048.3:n.1094C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000116.5:c.773C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001303465.2:c.785C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181311.4:c.683C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181312.4:c.731C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181313.4:c.641C>A - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001469127Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical Cityno assertion criteria providedLikely pathogenic
(Aug 7, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City, SCV001469127.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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