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NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 27, 2020
Accession:
VCV000047849.13
Variation ID:
47849
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)

Allele ID
57013
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178756554 (GRCh38) GRCh38 UCSC
2: 179621281 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.79249T>C
NC_000002.12:g.178756554A>G
NG_011618.3:g.79249T>C
... more HGVS
Protein change
I3641T, I3470T
Other names
p.I3470T:ATT>ACT
Canonical SPDI
NC_000002.12:178756553:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (G)

Allele frequency
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00016
The Genome Aggregation Database (gnomAD) 0.00045
Trans-Omics for Precision Medicine (TOPMed) 0.00045
The Genome Aggregation Database (gnomAD), exomes 0.00014
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00033
The Genome Aggregation Database (gnomAD) 0.00032
Trans-Omics for Precision Medicine (TOPMed) 0.00036
Links
ClinGen: CA142036
dbSNP: rs141027782
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 1, 2016 RCV000462754.6
Likely benign 1 criteria provided, single submitter Oct 27, 2020 RCV001088266.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 1, 2015 RCV000041118.5
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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
7705 17950

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001153153.7
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Dec 18, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064809.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ile3470Thr in exon 44B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 2.6% (5/192) of … (more)
Likely benign
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555226.6
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Dec 01, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000238082.7
Submitted: (Jul 13, 2017)
Evidence details
Comment:
Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in … (more)

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 rs141027782...

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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 27, 2021