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NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr) AND TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 27, 2018
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:
RCV000735208.3

Allele description [Variation Report for NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)]

NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)

Genes:
P2RX5-TAX1BP3:P2RX5-TAX1BP3 readthrough (NMD candidate) [Gene - HGNC]
TAX1BP3:Tax1 binding protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)
HGVS:
  • NC_000017.11:g.3664199A>G
  • NG_012489.2:g.32732A>G
  • NG_053154.1:g.9481T>C
  • NM_001204698.2:c.160-314T>C
  • NM_014604.4:c.233T>CMANE SELECT
  • NP_055419.1:p.Met78Thr
  • NC_000017.10:g.3567493A>G
  • NM_014604.2:c.233T>C
  • NR_037928.1:n.5288T>C
Protein change:
M78T
Links:
dbSNP: rs1307997067
NCBI 1000 Genomes Browser:
rs1307997067
Molecular consequence:
  • NM_001204698.2:c.160-314T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014604.4:c.233T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037928.1:n.5288T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000863415Undiagnosed Diseases Network, NIH
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 27, 2018) 		maternal, unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Whitematernalyes31not providednot providednot providedclinical testing
Whiteunknownno1not providednot providednot providednot 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 Undiagnosed Diseases Network, NIH, SCV000863415.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1White3not providednot providedclinical testing
(GTR000553916.1)		 PubMed (1)
2White1not providednot providedclinical testing
(GTR000553916.1)		 PubMed (1)

Description

A hemizygous c.233T>C (p.M78T) variant in the TAX1BP3 gene was detected in three brothers (14yo male, 20yo male, and male that died suddently at age 17) with similar symptoms. Exome sequencing showed that all three brothers are hemizygous, the mother is heterozygous, and the father is negative for this change. Concurrent array analysis revealed a heterozygous copy number loss of approximately 238 Kb in size (genomic position chr17:3394299- 3632836) in all three brothers. This large deletion encompasses the entire TAX1BP3 gene. SNP arrays detected this deletion as heterozygous in all three brothers and the father. The mother is negative for the deletion. Therefore, the 238 Kb deletion and the c.233T>C (p.M78T) variant are located on two chromosomes (in trans configuration). We believe the combination of the missense variant and deletion in trans is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providedbloodnot provided
(GTR000553916.1)		3not provided1not provided
2unknownnonot providedbloodnot provided
(GTR000553916.1)		1not providednot providednot provided

Last Updated: Oct 18, 2025