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NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) AND Myopathy, myofibrillar, 9, with early respiratory failure

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 2018
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:
RCV001333492.1

Allele description [Variation Report for NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)]

NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)

Genes:
LOC129935184:ATAC-STARR-seq lymphoblastoid active region 16809 [Gene]
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.105514_105516del (p.Ser35172del)
Other names:
p.Ser33531del
HGVS:
  • NC_000002.12:g.178531101_178531103del
  • NG_011618.3:g.304702_304704del
  • NG_051363.1:g.13275_13277del
  • NM_001256850.1:c.100591_100593del
  • NM_001267550.2:c.105514_105516delMANE SELECT
  • NM_003319.4:c.78319_78321del
  • NM_133378.4:c.97810_97812del
  • NM_133432.3:c.78694_78696del
  • NM_133437.4:c.78895_78897del
  • NP_001243779.1:p.Ser33531del
  • NP_001254479.2:p.Ser35172del
  • NP_003310.4:p.Ser26107del
  • NP_596869.4:p.Ser32604del
  • NP_597676.3:p.Ser26232del
  • NP_597681.4:p.Ser26299del
  • LRG_391t1:c.105514_105516del
  • LRG_391:g.304702_304704del
  • NC_000002.11:g.179395828_179395830del
  • NM_001267550.1:c.105514_105516del
  • NM_001267550.1:c.105514_105516delTCT
  • NM_001267550.2:c.105514_105516delTCTMANE SELECT
  • NM_003319.4:c.78319_78321delTCT
  • NM_133378.4:c.97810_97812del
  • NM_133378.4:c.97810_97812delTCT
  • p.Ser32604del
Protein change:
S26107del
Links:
dbSNP: rs573843615
NCBI 1000 Genomes Browser:
rs573843615
Molecular consequence:
  • NM_001256850.1:c.100591_100593del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001267550.2:c.105514_105516del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_003319.4:c.78319_78321del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_133378.4:c.97810_97812del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_133432.3:c.78694_78696del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_133437.4:c.78895_78897del - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001526084Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 5, 2018) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot 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, SCV001526084.1

#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
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024