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NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535773.1

Allele description [Variation Report for NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs)]

NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs)
HGVS:
  • NC_000002.12:g.178740713TC[1]
  • NG_011618.3:g.95087GA[1]
  • NM_001256850.1:c.11568_11569del
  • NM_001267550.2:c.12519_12520delMANE SELECT
  • NM_003319.4:c.11430_11431del
  • NM_133378.4:c.10361-2354_10361-2353del
  • NM_133432.3:c.11805_11806del
  • NM_133437.4:c.12006_12007del
  • NP_001243779.1:p.Glu3856fs
  • NP_001254479.2:p.Glu4173fs
  • NP_003310.4:p.Glu3810fs
  • NP_597676.3:p.Glu3935fs
  • NP_597681.4:p.Glu4002fs
  • LRG_391:g.95087GA[1]
  • NC_000002.11:g.179605440TC[1]
  • NC_000002.11:g.179605440_179605441del
  • NM_001267550.2:c.12519_12520delGAMANE SELECT
Protein change:
E3810fs
Links:
dbSNP: rs1553939605
NCBI 1000 Genomes Browser:
rs1553939605
Molecular consequence:
  • NM_001256850.1:c.11568_11569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001267550.2:c.12519_12520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003319.4:c.11430_11431del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133432.3:c.11805_11806del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133437.4:c.12006_12007del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133378.4:c.10361-2354_10361-2353del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
Name:
Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMDR10)
Synonyms:
Limb-girdle muscular dystrophy, type 2J; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
Identifiers:
MONDO: MONDO:0012127; MedGen: C1837342; Orphanet: 140922; OMIM: 608807
Name:
Tibial muscular dystrophy (TMD)
Synonyms:
Distal myopathy Markesbery-Griggs type; UDD Myopathy; Tibial muscular dystrophy, tardive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010870; MedGen: C1838244; Orphanet: 609; OMIM: 600334
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
SCV001749920GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749920.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 12-18-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Apr 6, 2024