NM_001267550.2(TTN):c.39709+6C>T AND Tibial muscular dystrophy

Germline classification:: Benign (2 submissions)
Last evaluated:: Sep 10, 2021
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:: RCV001136172.14

Allele description [Variation Report for NM_001267550.2(TTN):c.39709+6C>T]

NM_001267550.2(TTN):c.39709+6C>T

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.39709+6C>T

HGVS:

NC_000002.12:g.178650745G>A
NG_011618.3:g.185058C>T
NM_001256850.1:c.35188+6C>T
NM_001267550.2:c.39709+6C>TMANE SELECT
NM_003319.4:c.13283-8428C>T
NM_133378.4:c.32407+6C>T
NM_133432.3:c.13658-8428C>T
NM_133437.4:c.13859-8428C>T
LRG_391t1:c.39709+6C>T
LRG_391:g.185058C>T
NC_000002.11:g.179515472G>A
NM_001267550.1:c.39709+6C>T
NM_133379.3:c.*94840C>T
c.32407+6C>T

Links:

dbSNP: rs72650067

NCBI 1000 Genomes Browser:

rs72650067

Molecular consequence:

NM_001256850.1:c.35188+6C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001267550.2:c.39709+6C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_003319.4:c.13283-8428C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133378.4:c.32407+6C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13658-8428C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13859-8428C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Tibial muscular dystrophy (TMD)
Synonyms:: UDD MYOPATHY; Distal myopathy Markesbery-Griggs type; Tibial muscular dystrophy, tardive; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010870; MedGen: C1838244; Orphanet: 609; OMIM: 600334

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001295994	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV002101217	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 10, 2021)	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

SCV001295994

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 27, 2017)

germline

clinical testing

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

Citation Link,

SCV002101217

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Sep 10, 2021)

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
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.

Campuzano O, Sanchez-Molero O, Mademont-Soler I, Riuró H, Allegue C, Coll M, Pérez-Serra A, Mates J, Picó F, Iglesias A, Brugada R.

Int J Mol Sci. 2015 Oct 27;16(10):25773-87. doi: 10.3390/ijms161025773.

PubMed [citation]

PMID:: 26516846
PMCID:: PMC4632826

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 Illumina Laboratory Services, Illumina, SCV001295994.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#	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

From Genome-Nilou Lab, SCV002101217.1

#	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: Mar 11, 2025

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