NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 20, 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:: RCV002345317.2

Allele description [Variation Report for NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)]

NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)

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.82220T>C (p.Ile27407Thr)

HGVS:

NC_000002.12:g.178563912A>G
NG_011618.3:g.271891T>C
NG_051363.1:g.46086A>G
NM_001256850.1:c.77297T>C
NM_001267550.2:c.82220T>CMANE SELECT
NM_003319.4:c.55025T>C
NM_133378.4:c.74516T>C
NM_133432.3:c.55400T>C
NM_133437.4:c.55601T>C
NP_001243779.1:p.Ile25766Thr
NP_001254479.2:p.Ile27407Thr
NP_003310.4:p.Ile18342Thr
NP_596869.4:p.Ile24839Thr
NP_597676.3:p.Ile18467Thr
NP_597681.4:p.Ile18534Thr
LRG_391:g.271891T>C
NC_000002.11:g.179428639A>G
NM_003319.4:c.55025T>C
c.74516T>C

Protein change:

I18342T

Links:

dbSNP: rs376037252

NCBI 1000 Genomes Browser:

rs376037252

Molecular consequence:

NM_001256850.1:c.77297T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.82220T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.55025T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.74516T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.55400T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.55601T>C - 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
SCV002651067	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 20, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002651067

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 20, 2018)

germline

clinical testing

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

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

Citations

PubMed

Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.

Yehia L, Ni Y, Eng C.

NPJ Genom Med. 2017;2:37. doi: 10.1038/s41525-017-0039-y.

PubMed [citation]

PMID:: 29263846
PMCID:: PMC5735137

Details of each submission

From Ambry Genetics, SCV002651067.2

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

Description

The p.I18342T variant (also known as c.55025T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 55025. The isoleucine at codon 18342 is replaced by threonine, an amino acid with similar properties. This alteration, noted as p.I27407T (c.82220T>C) was reported in a subject with features of Bannayan-Riley-Ruvalcaba syndrome who was negative for PTEN alterations (Yehia L et al. NPJ Genom Med, 2017 Dec;2:37). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Jan 19, 2025

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