NM_006073.4(TRDN):c.2132G>A (p.Arg711His) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 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:: RCV002418760.10

Allele description [Variation Report for NM_006073.4(TRDN):c.2132G>A (p.Arg711His)]

NM_006073.4(TRDN):c.2132G>A (p.Arg711His)

Gene:

TRDN:triadin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.31

Genomic location:

Preferred name:

NM_006073.4(TRDN):c.2132G>A (p.Arg711His)

HGVS:

NC_000006.12:g.123218659C>T
NG_030438.1:g.423435G>A
NM_006073.4:c.2132G>AMANE SELECT
NP_006064.2:p.Arg711His
NC_000006.11:g.123539804C>T
NM_006073.2:c.2132G>A
NM_006073.3:c.2132G>A

Protein change:

R711H

Links:

dbSNP: rs763375903

NCBI 1000 Genomes Browser:

rs763375903

Molecular consequence:

NM_006073.4:c.2132G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002726156	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002726156

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 28, 2023)

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 Ambry Genetics, SCV002726156.3

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

Description

The p.R711H variant (also known as c.2132G>A), located in coding exon 41 of the TRDN gene, results from a G to A substitution at nucleotide position 2132. The arginine at codon 711 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 24, 2024

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