NM_001267550.2(TTN):c.107837A>C (p.His35946Pro) AND Tibial muscular dystrophy

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000031994.4

Allele description [Variation Report for NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)]

NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)

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.107837A>C (p.His35946Pro)

HGVS:

NC_000002.12:g.178527151T>G
NG_011618.3:g.308652A>C
NG_051363.1:g.9325T>G
NM_001256850.1:c.102914A>C
NM_001267550.2:c.107837A>CMANE SELECT
NM_003319.4:c.80642A>C
NM_133378.4:c.100133A>C
NM_133432.3:c.81017A>C
NM_133437.4:c.81218A>C
NP_001243779.1:p.His34305Pro
NP_001254479.2:p.His35946Pro
NP_003310.4:p.His26881Pro
NP_596869.4:p.His33378Pro
NP_597676.3:p.His27006Pro
NP_597681.4:p.His27073Pro
LRG_391:g.308652A>C
NC_000002.11:g.179391878T>G

Nucleotide change:

AJ277892.2:g.293326A>C

Protein change:

H26881P

Links:

dbSNP: rs281864931

NCBI 1000 Genomes Browser:

rs281864931

Molecular consequence:

NM_001256850.1:c.102914A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.107837A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.80642A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.100133A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.81017A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.81218A>C - missense variant - [Sequence Ontology: SO:0001583]

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

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
SCV000054696	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 19911250, 20301498

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000054696

GeneReviews

no classification provided

not provided

germline

literature only

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	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B.

J Neurol. 2010 Apr;257(4):575-9. doi: 10.1007/s00415-009-5372-3. Epub 2009 Nov 13.

PubMed [citation]

PMID:: 19911250

Udd Distal Myopathy – Tibial Muscular Dystrophy.

Udd B, Hackman P.

2005 Feb 17 [updated 2020 Jan 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301498

Details of each submission

From GeneReviews, SCV000054696.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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: Nov 5, 2022

ClinVar

Relating variation to medicine