NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) AND Tibial muscular dystrophy

Clinical significance:Pathogenic (Last evaluated: Feb 12, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000013490.22

Allele description [Variation Report for NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)]

NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)

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.107840T>A (p.Ile35947Asn)
HGVS:
  • NC_000002.12:g.178527148A>T
  • NG_011618.3:g.308655T>A
  • NG_051363.1:g.9322A>T
  • NM_001256850.1:c.102917T>A
  • NM_001267550.2:c.107840T>AMANE SELECT
  • NM_003319.4:c.80645T>A
  • NM_133378.4:c.100136T>A
  • NM_133432.3:c.81020T>A
  • NM_133437.4:c.81221T>A
  • NP_001243779.1:p.Ile34306Asn
  • NP_001254479.2:p.Ile35947Asn
  • NP_003310.4:p.Ile26882Asn
  • NP_596869.4:p.Ile33379Asn
  • NP_597676.3:p.Ile27007Asn
  • NP_597681.4:p.Ile27074Asn
  • LRG_391t1:c.107840T>A
  • LRG_391:g.308655T>A
  • LRG_391p1:p.Ile35947Asn
  • NC_000002.11:g.179391875A>T
Nucleotide change:
293329T-A
Protein change:
I26882N
Links:
OMIM: 188840.0006; dbSNP: rs281864928
NCBI 1000 Genomes Browser:
rs281864928
Molecular consequence:
  • NM_001256850.1:c.102917T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.107840T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.80645T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.100136T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.81020T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.81221T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033737OMIMno assertion criteria providedPathogenic
(Aug 1, 2003)
germlineliterature only

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

SCV000054697GeneReviewsno assertion criteria providedPathogenic
(Dec 19, 2019)
germlineliterature only

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

SCV001149973Institute of Human Genetics, Klinikum rechts der Isarcriteria provided, single submitter
Pathogenic
(Feb 12, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyes2not providednot provided2not providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Tibial muscular dystrophy in a Belgian family.

Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B.

Ann Neurol. 2003 Aug;54(2):248-51.

PubMed [citation]
PMID:
12891679

Udd Distal Myopathy – Tibial Muscular Dystrophy.

Udd B, Hackman P.

2005 Feb 17 [updated 2020 Jan 2]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

PubMed [citation]
PMID:
20301498

Details of each submission

From OMIM, SCV000033737.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a Belgian family with tibial muscular dystrophy (600334), Van den Bergh et al. (2003) identified a heterozygous 293329T-A change in the Mex6 exon of the TTN gene, resulting in an ile-to-asn substitution. The family showed incomplete disease penetrance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV000054697.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Institute of Human Genetics, Klinikum rechts der Isar, SCV001149973.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided
2germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Oct 16, 2021

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