NM_000116.5(TAFAZZIN):c.777+1G>A AND Cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 25, 2019
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:: RCV001193472.1

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.777+1G>A]

NM_000116.5(TAFAZZIN):c.777+1G>A

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.777+1G>A

HGVS:

NC_000023.11:g.154420736G>A
NG_009634.2:g.14202G>A
NM_000116.5:c.777+1G>AMANE SELECT
NM_001303465.2:c.789+1G>A
NM_001410698.1:c.741+1G>A
NM_181311.4:c.687+1G>A
NM_181312.4:c.735+1G>A
NM_181313.4:c.645+1G>A
LRG_131t1:c.777+1G>A
LRG_131:g.14202G>A
NC_000023.10:g.153649075G>A
NC_000023.10:g.153649075G>A
NM_000116.4:c.777+1G>A

Links:

dbSNP: rs2068606932

NCBI 1000 Genomes Browser:

rs2068606932

Molecular consequence:

NM_000116.5:c.777+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001303465.2:c.789+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001410698.1:c.741+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_181311.4:c.687+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_181312.4:c.735+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_181313.4:c.645+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001362335	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely pathogenic (Nov 25, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001362335

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely pathogenic
(Nov 25, 2019)

germline

clinical testing

Citation Link

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362335.1

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

Description

Variant summary: TAZ c.777+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5 splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 183390 control chromosomes (gnomAD). To our knowledge, no occurrence of c.777+1G>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

#	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: Sep 29, 2024

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