NM_001267550.2(TTN):c.53002+10G>A AND Myopathy, myofibrillar, 9, with early respiratory failure

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001336911.1

Allele description [Variation Report for NM_001267550.2(TTN):c.53002+10G>A]

NM_001267550.2(TTN):c.53002+10G>A

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.53002+10G>A
HGVS:
  • NC_000002.12:g.178607775C>T
  • NG_011618.3:g.228028G>A
  • NG_051363.1:g.89949C>T
  • NM_001256850.1:c.48079+10G>A
  • NM_001256850.1:c.48079+10G>A
  • NM_001267550.2:c.53002+10G>AMANE SELECT
  • NM_001267550.2:c.53002+10G>AMANE SELECT
  • NM_003319.4:c.25807+10G>A
  • NM_133378.4:c.45298+10G>A
  • NM_133378.4:c.45298+10G>A
  • NM_133432.3:c.26182+10G>A
  • NM_133437.4:c.26383+10G>A
  • LRG_391:g.228028G>A
  • NC_000002.11:g.179472502C>T
  • NC_000002.11:g.179472502C>T
  • NM_133379.3:c.*137810G>A
  • c.45298+10G>A
Links:
dbSNP: rs370352450
NCBI 1000 Genomes Browser:
rs370352450
Molecular consequence:
  • NM_001256850.1:c.48079+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.53002+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.25807+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.45298+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.26182+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.26383+10G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001530432Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Jun 14, 2018)
paternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical 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 Baylor Genetics, SCV001530432.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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