NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Jun 10, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000228793.9

Allele description [Variation Report for NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)]

NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)

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.105127C>T (p.Arg35043Cys)

Other names:

p.R33402C:CGC>TGC

HGVS:

NC_000002.12:g.178531488G>A
NG_011618.3:g.304315C>T
NG_051363.1:g.13662G>A
NM_001256850.1:c.100204C>T
NM_001267550.2:c.105127C>TMANE SELECT
NM_003319.4:c.77932C>T
NM_133378.4:c.97423C>T
NM_133432.3:c.78307C>T
NM_133437.4:c.78508C>T
NP_001243779.1:p.Arg33402Cys
NP_001254479.2:p.Arg35043Cys
NP_003310.4:p.Arg25978Cys
NP_596869.4:p.Arg32475Cys
NP_597676.3:p.Arg26103Cys
NP_597681.4:p.Arg26170Cys
LRG_391t1:c.105127C>T
LRG_391:g.304315C>T
NC_000002.11:g.179396215G>A
NM_001267550.1:c.105127C>T
c.97423C>T

Protein change:

R25978C

Links:

dbSNP: rs200378865

NCBI 1000 Genomes Browser:

rs200378865

Molecular consequence:

NM_001256850.1:c.100204C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.105127C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.77932C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.97423C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.78307C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.78508C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000237941	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jun 10, 2019)	germline	clinical testing	Citation Link,
SCV001146304	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Dec 26, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24558114, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000237941

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jun 10, 2019)

germline

clinical testing

Citation Link,

SCV001146304

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Dec 26, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.

van Spaendonck-Zwarts KY, Posafalvi A, van den Berg MP, Hilfiker-Kleiner D, Bollen IA, Sliwa K, Alders M, Almomani R, van Langen IM, van der Meer P, Sinke RJ, van der Velden J, Van Veldhuisen DJ, van Tintelen JP, Jongbloed JD.

Eur Heart J. 2014 Aug 21;35(32):2165-73. doi: 10.1093/eurheartj/ehu050. Epub 2014 Feb 20.

PubMed [citation]

PMID:: 24558114

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000237941.3

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

Description

This variant is associated with the following publications: (PMID: 24558114)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV001146304.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: May 16, 2025

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