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NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
6 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000332702.2
Variation ID:
332702
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu)

Allele ID
283925
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178535577 (GRCh38) GRCh38 UCSC
2: 179400304 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179400304T>C
NC_000002.12:g.178535577T>C
NG_011618.3:g.300226A>G
... more HGVS
Protein change
K31112E, K33680E, K32039E, K24615E, K24740E, K24807E
Other names
-
Canonical SPDI
NC_000002.12:178535576:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10612010
dbSNP: rs886055226
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000267805.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000278888.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000321791.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000323356.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000373413.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000376402.2
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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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Udd Distal Myopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000420254.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Limb-Girdle Muscular Dystrophy, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000420257.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Salih Myopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000420255.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hypertrophic Cardiomyopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000420253.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated Cardiomyopathy, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000420256.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(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: SCV000420258.2
Submitted: (Oct 18, 2016)
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 rs886055226...

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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 Sep 29, 2021