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NM_006073.4(TRDN):c.430C>T (p.His144Tyr) AND Catecholaminergic polymorphic ventricular tachycardia 5

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 9, 2023
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:
RCV003741164.1

Allele description [Variation Report for NM_006073.4(TRDN):c.430C>T (p.His144Tyr)]

NM_006073.4(TRDN):c.430C>T (p.His144Tyr)

Gene:
TRDN:triadin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_006073.4(TRDN):c.430C>T (p.His144Tyr)
HGVS:
  • NC_000006.12:g.123530560G>A
  • NG_030438.1:g.111534C>T
  • NM_001251987.2:c.430C>T
  • NM_001256020.2:c.430C>T
  • NM_001256021.2:c.430C>T
  • NM_001256022.2:c.430C>T
  • NM_006073.4:c.430C>TMANE SELECT
  • NP_001238916.1:p.His144Tyr
  • NP_001242949.1:p.His144Tyr
  • NP_001242950.1:p.His144Tyr
  • NP_001242951.1:p.His144Tyr
  • NP_006064.2:p.His144Tyr
  • NC_000006.11:g.123851705G>A
  • NM_006073.2:c.430C>T
  • NM_006073.3:c.430C>T
Protein change:
H144Y
Links:
dbSNP: rs79182520
NCBI 1000 Genomes Browser:
rs79182520
Molecular consequence:
  • NM_001251987.2:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256020.2:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256021.2:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256022.2:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006073.4:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Catecholaminergic polymorphic ventricular tachycardia 5 (CARDAR)
Synonyms:
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness; CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS
Identifiers:
MONDO: MONDO:0014191; MedGen: C3809536; Orphanet: 3286; OMIM: 615441

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004564917ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Nov 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004564917.1

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

Last Updated: Oct 8, 2024