NM_001267550.2(TTN):c.88979_88985delATGGCGG (p.Asp29660Valfs) AND Myopathy, early-onset, with fatal cardiomyopathy

replaced

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 30, 2014
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:: RCV000279379.1

Allele description

NM_001267550.2(TTN):c.88979_88985delATGGCGG (p.Asp29660Valfs)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.88979_88985delATGGCGG (p.Asp29660Valfs)

HGVS:

NC_000002.12:g.178554126_178554132delCCGCCAT
NM_001267550.2:c.88979_88985delATGGCGG
NP_001254479.2:p.Asp29660Valfs
NP_596869.4:p.Asp27092Valfs
LRG_391:g.281671_281677del
NC_000002.11:g.179418853_179418859delCCGCCAT

Links:

dbSNP: rs794727468

NCBI 1000 Genomes Browser:

rs794727468

Molecular consequence:

NM_001267550.2:c.88979_88985delATGGCGG - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Myopathy, early-onset, with fatal cardiomyopathy (SALMY)
Synonyms:: Salih Myopathy
Identifiers:: MedGen: C2673677; Orphanet: 289377; OMIM: 611705

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000331682	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions)	Likely pathogenic (Oct 30, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000331682

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions)

Likely pathogenic
(Oct 30, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000331682.3

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

#	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		1	not provided	not provided	not provided

Last Updated: Jun 22, 2019

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