NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) AND Myopathy, myofibrillar, 9, with early respiratory failure

Clinical significance:Pathogenic (Last evaluated: Feb 27, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000119026.2

Allele description [Variation Report for NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)]

NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)

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.95358C>G (p.Asn31786Lys)
Other names:
Q8WZ42.4:p.Asn30145Lys
HGVS:
  • NC_000002.12:g.178545878G>C
  • NG_011618.3:g.289925C>G
  • NG_051363.1:g.28052G>C
  • NM_001256850.1:c.90435C>G
  • NM_001267550.2:c.95358C>GMANE SELECT
  • NM_003319.4:c.68163C>G
  • NM_133378.4:c.87654C>G
  • NM_133432.3:c.68538C>G
  • NM_133437.4:c.68739C>G
  • NP_001243779.1:p.Asn30145Lys
  • NP_001254479.2:p.Asn31786Lys
  • NP_003310.4:p.Asn22721Lys
  • NP_596869.4:p.Asn29218Lys
  • NP_597676.3:p.Asn22846Lys
  • NP_597681.4:p.Asn22913Lys
  • AJ277892.2:g.274599C>G
  • LRG_391:g.289925C>G
  • NC_000002.11:g.179410605G>C
Protein change:
N22721K
Links:
dbSNP: rs869320743
NCBI 1000 Genomes Browser:
rs869320743
Molecular consequence:
  • NM_001256850.1:c.90435C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.95358C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.68163C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.87654C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.68538C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.68739C>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
SCV000153728GeneReviewsno assertion criteria providedPathogenic
(Feb 27, 2014)
germlineliterature only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000153728.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 6, 2021

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