NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu) AND Myopathy, myofibrillar, 9, with early respiratory failure

Clinical significance:Uncertain significance (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:
RCV000278888.2

Allele description [Variation Report for NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu)]

NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu)

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.101038A>G (p.Lys33680Glu)
HGVS:
  • NC_000002.12:g.178535577T>C
  • NG_011618.3:g.300226A>G
  • NG_051363.1:g.17751T>C
  • NM_001256850.1:c.96115A>G
  • NM_001267550.2:c.101038A>GMANE SELECT
  • NM_003319.4:c.73843A>G
  • NM_133378.4:c.93334A>G
  • NM_133432.3:c.74218A>G
  • NM_133437.4:c.74419A>G
  • NP_001243779.1:p.Lys32039Glu
  • NP_001254479.2:p.Lys33680Glu
  • NP_003310.4:p.Lys24615Glu
  • NP_596869.4:p.Lys31112Glu
  • NP_597676.3:p.Lys24740Glu
  • NP_597681.4:p.Lys24807Glu
  • LRG_391:g.300226A>G
  • NC_000002.11:g.179400304T>C
Protein change:
K24615E
Links:
dbSNP: rs886055226
NCBI 1000 Genomes Browser:
rs886055226
Molecular consequence:
  • NM_001256850.1:c.96115A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.101038A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.73843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.93334A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.74218A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.74419A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000420258Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(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, SCV000420258.2

#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: Sep 29, 2021

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