NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Apr 8, 2025
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:: RCV000152501.9

Allele description [Variation Report for NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)]

NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)

HGVS:

NC_000002.12:g.178776491G>T
NG_011618.3:g.59312C>A
NM_001256850.1:c.5373C>A
NM_001267550.2:c.5373C>AMANE SELECT
NM_003319.4:c.5235C>A
NM_133378.4:c.5373C>A
NM_133379.5:c.5373C>A
NM_133432.3:c.5235C>A
NM_133437.4:c.5235C>A
NP_001243779.1:p.Thr1791=
NP_001254479.2:p.Thr1791=
NP_003310.4:p.Thr1745=
NP_596869.4:p.Thr1791=
NP_596870.2:p.Thr1791=
NP_597676.3:p.Thr1745=
NP_597681.4:p.Thr1745=
LRG_391:g.59312C>A
NC_000002.11:g.179641218G>T
NM_003319.4:c.5235C>A
p.Thr1791Thr

Links:

dbSNP: rs727503693

NCBI 1000 Genomes Browser:

rs727503693

Molecular consequence:

NM_001256850.1:c.5373C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001267550.2:c.5373C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003319.4:c.5235C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133378.4:c.5373C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133379.5:c.5373C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133432.3:c.5235C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133437.4:c.5235C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000201665	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Aug 13, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001433118	Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 8, 2025)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000201665

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Aug 13, 2013)

germline

clinical testing

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

SCV001433118

Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Apr 8, 2025)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000201665.5

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

Description

Thr1791Thr in exon 28 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Thr1791Thr in exon 28 of TTN: (allele freque ncy = n/a)

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

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV001433118.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 3, 2025

ClinVar

Relating variation to medicine