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NM_001267550.2(TTN):c.*99dup

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 7, 2021)
Last evaluated:
Aug 18, 2019
Accession:
VCV000332674.4
Variation ID:
332674
Description:
1bp duplication
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NM_001267550.2(TTN):c.*99dup

Allele ID
285684
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178526912-178526913 (GRCh38) GRCh38 UCSC
2: 179391639-179391640 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_133378.4:c.*99dupA 3 prime UTR
LRG_391:g.308890dup
NC_000002.11:g.179391647dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178526912:TTTTTTTT:TTTTTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
0.01500 (TTTTTTT)

Allele frequency
-
Links
ClinGen: CA10612993
dbSNP: rs11424072
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000274680.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000270695.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000318095.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000314706.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000367098.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000374980.2
Benign 1 criteria provided, single submitter Aug 18, 2019 RCV001613082.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7638 17883
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated Cardiomyopathy, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000419793.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Udd Distal Myopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000419796.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hypertrophic Cardiomyopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000419794.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Limb-Girdle Muscular Dystrophy, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000419791.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Salih Myopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000419795.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary Myopathy with Early Respiratory Failure
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000419792.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Aug 18, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001834987.1
Submitted: (Sep 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs11424072...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 06, 2021