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NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 2021
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:
RCV002460960.2

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)]

NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)

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.674C>T (p.Pro225Leu)
Other names:
p.P225L:CCG>CTG
HGVS:
  • NC_000023.11:g.154420239C>T
  • NG_009634.2:g.13705C>T
  • NM_000116.5:c.674C>TMANE SELECT
  • NM_001303465.2:c.686C>T
  • NM_181311.4:c.584C>T
  • NM_181312.4:c.632C>T
  • NM_181313.4:c.542C>T
  • NP_000107.1:p.Pro225Leu
  • NP_001290394.1:p.Pro229Leu
  • NP_851828.1:p.Pro195Leu
  • NP_851829.1:p.Pro211Leu
  • NP_851830.1:p.Pro181Leu
  • LRG_131t1:c.674C>T
  • LRG_131:g.13705C>T
  • LRG_131p1:p.Pro225Leu
  • NC_000023.10:g.153648578C>T
  • NG_009634.1:g.13702C>T
  • NM_000116.3:c.674C>T
  • NM_000116.4:c.674C>T
  • NR_024048.3:n.995C>T
Protein change:
P181L
Links:
dbSNP: rs375151766
NCBI 1000 Genomes Browser:
rs375151766
Molecular consequence:
  • NM_000116.5:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303465.2:c.686C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181311.4:c.584C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181312.4:c.632C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181313.4:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024048.3:n.995C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002756014Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 29, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002756014.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.P225L variant (also known as c.674C>T), located in coding exon 9 of the TAZ gene, results from a C to T substitution at nucleotide position 674. The proline at codon 225 is replaced by leucine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (6/183454) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.01% (2/19080) of South Asian alleles. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024