NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys) AND Early-onset myopathy with fatal cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 7, 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:: RCV002464251.2

Allele description [Variation Report for NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys)]

NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys)

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.95562G>C (p.Trp31854Cys)

HGVS:

NC_000002.12:g.178545548C>G
NG_011618.3:g.290255G>C
NG_051363.1:g.27722C>G
NM_001256850.1:c.90639G>C
NM_001267550.2:c.95562G>CMANE SELECT
NM_003319.4:c.68367G>C
NM_133378.4:c.87858G>C
NM_133432.3:c.68742G>C
NM_133437.4:c.68943G>C
NP_001243779.1:p.Trp30213Cys
NP_001254479.2:p.Trp31854Cys
NP_003310.4:p.Trp22789Cys
NP_596869.4:p.Trp29286Cys
NP_597676.3:p.Trp22914Cys
NP_597681.4:p.Trp22981Cys
LRG_391:g.290255G>C
NC_000002.11:g.179410275C>G

Protein change:

W22789C

Links:

dbSNP: rs752756889

NCBI 1000 Genomes Browser:

rs752756889

Molecular consequence:

NM_001256850.1:c.90639G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.95562G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.68367G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.87858G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.68742G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.68943G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Early-onset myopathy with fatal cardiomyopathy (CMYO5)
Synonyms:: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; Salih Myopathy
Identifiers:: MONDO: MONDO:0012714; MedGen: C2673677; Orphanet: 289377; OMIM: 611705

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002759348	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 7, 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

SCV002759348

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 7, 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	yes	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 Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV002759348.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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