NM_001267550.2(TTN):c.55270-3T>C AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 4, 2022
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:: RCV004017696.1

Allele description [Variation Report for NM_001267550.2(TTN):c.55270-3T>C]

NM_001267550.2(TTN):c.55270-3T>C

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.55270-3T>C

HGVS:

NC_000002.12:g.178601917A>G
NG_011618.3:g.233886T>C
NG_051363.1:g.84091A>G
NM_001256850.1:c.50347-3T>C
NM_001267550.2:c.55270-3T>CMANE SELECT
NM_003319.4:c.28075-3T>C
NM_133378.4:c.47566-3T>C
NM_133432.3:c.28450-3T>C
NM_133437.4:c.28651-3T>C
LRG_391:g.233886T>C
NC_000002.11:g.179466644A>G
NM_001267550.2:c.55270-3T>C
NM_003319.4:c.28075-3T>C

Links:

dbSNP: rs749109513

NCBI 1000 Genomes Browser:

rs749109513

Molecular consequence:

NM_001256850.1:c.50347-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001267550.2:c.55270-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_003319.4:c.28075-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133378.4:c.47566-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.28450-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.28651-3T>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000713807	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (May 4, 2022)	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

SCV000713807

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(May 4, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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, SCV000713807.3

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

Description

The c.47566-3T>C variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 0.0008% (1/111878) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is located in the 3' splice region, but computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the c.47566-3T>C variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: PM2_Supporting, BP4.

#	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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