NM_001267550.2(TTN):c.*99dup AND Myopathy, myofibrillar, 9, with early respiratory failure

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000314706.2

Allele description [Variation Report for NM_001267550.2(TTN):c.*99dup]

NM_001267550.2(TTN):c.*99dup

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.*99dup
HGVS:
  • NC_000002.12:g.178526920dup
  • NG_011618.3:g.308890dup
  • NG_051363.1:g.9094dup
  • NM_001256850.1:c.*99dup
  • NM_001267550.2:c.*99dupMANE SELECT
  • NM_003319.4:c.*99dup
  • NM_133378.4:c.*99dup
  • NM_133432.3:c.*99dup
  • NM_133437.4:c.*99dup
  • LRG_391:g.308890dup
  • NC_000002.11:g.179391647dup
  • NM_133378.4:c.*99dupA
Links:
dbSNP: rs11424072
NCBI 1000 Genomes Browser:
rs11424072
Molecular consequence:
  • NM_001256850.1:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001267550.2:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_003319.4:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_133378.4:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_133432.3:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_133437.4:c.*99dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Myopathy, myofibrillar, 9, with early respiratory failure (MFM9)
Synonyms:
EDSTROM MYOPATHY; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; Hereditary myopathy with early respiratory failure; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011362; MedGen: C1863599; Orphanet: 178464; Orphanet: 34521; OMIM: 603689

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000419792Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000419792.2

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

Last Updated: Nov 27, 2021

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