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NM_001267550.2(TTN):c.14314dup (p.Cys4772fs) AND Dilated cardiomyopathy 1G

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 7, 2024
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:
RCV003991496.2

Allele description [Variation Report for NM_001267550.2(TTN):c.14314dup (p.Cys4772fs)]

NM_001267550.2(TTN):c.14314dup (p.Cys4772fs)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.14314dup (p.Cys4772fs)
HGVS:
  • NC_000002.12:g.178738139dup
  • NG_011618.3:g.97664dup
  • NM_001256850.1:c.13363dup
  • NM_001267550.2:c.14314dupMANE SELECT
  • NM_003319.4:c.13225dup
  • NM_133378.4:c.10582dup
  • NM_133432.3:c.13600dup
  • NM_133437.4:c.13801dup
  • NP_001243779.1:p.Cys4455fs
  • NP_001254479.1:p.Cys4772Leufs
  • NP_001254479.2:p.Cys4772fs
  • NP_003310.4:p.Cys4409fs
  • NP_596869.4:p.Cys3528fs
  • NP_597676.3:p.Cys4534fs
  • NP_597681.4:p.Cys4601fs
  • LRG_391t1:c.14314dup
  • LRG_391:g.97664dup
  • LRG_391p1:p.Cys4772Leufs
  • NC_000002.11:g.179602866dup
  • NM_001267550.1:c.14314dup
Protein change:
C3528fs
Molecular consequence:
  • NM_001256850.1:c.13363dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001267550.2:c.14314dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003319.4:c.13225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133378.4:c.10582dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133432.3:c.13600dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133437.4:c.13801dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Dilated cardiomyopathy 1G (CMD1G)
Identifiers:
MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004809112KardioGenetik, Herz- und Diabeteszentrum NRW
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 7, 2024) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 KardioGenetik, Herz- und Diabeteszentrum NRW, SCV004809112.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024