NM_001267550.2(TTN):c.103687G>A (p.Val34563Met) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 4, 2020
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:: RCV002388090.2

Allele description [Variation Report for NM_001267550.2(TTN):c.103687G>A (p.Val34563Met)]

NM_001267550.2(TTN):c.103687G>A (p.Val34563Met)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.103687G>A (p.Val34563Met)

HGVS:

NC_000002.12:g.178532928C>T
NG_011618.3:g.302875G>A
NG_051363.1:g.15102C>T
NM_001256850.1:c.98764G>A
NM_001267550.2:c.103687G>AMANE SELECT
NM_003319.4:c.76492G>A
NM_133378.4:c.95983G>A
NM_133432.3:c.76867G>A
NM_133437.4:c.77068G>A
NP_001243779.1:p.Val32922Met
NP_001254479.2:p.Val34563Met
NP_003310.4:p.Val25498Met
NP_596869.4:p.Val31995Met
NP_597676.3:p.Val25623Met
NP_597681.4:p.Val25690Met
LRG_391:g.302875G>A
NC_000002.11:g.179397655C>T
NM_003319.4:c.76492G>A
p.Val32922Met

Protein change:

V25498M

Links:

dbSNP: rs369429739

NCBI 1000 Genomes Browser:

rs369429739

Molecular consequence:

NM_001256850.1:c.98764G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.103687G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.76492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.95983G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.76867G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.77068G>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
SCV002672833	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 4, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002672833

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 4, 2020)

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, SCV002672833.2

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

Description

The p.V25498M variant (also known as c.76492G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 76492. The valine at codon 25498 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available 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: Oct 20, 2024

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