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NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jul 4, 2021)
Last evaluated:
Jun 2, 2020
Accession:
VCV000203080.9
Variation ID:
203080
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)

Allele ID
198723
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178532201 (GRCh38) GRCh38 UCSC
2: 179396928 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179396928C>T
NC_000002.12:g.178532201C>T
NM_001267550.2:c.104414G>A MANE Select NP_001254479.2:p.Arg34805Gln missense
... more HGVS
Protein change
R33164Q, R34805Q, R32237Q, R25740Q, R25932Q, R25865Q
Other names
p.R33164Q:CGA>CAA
Canonical SPDI
NC_000002.12:178532200:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00013
The Genome Aggregation Database (gnomAD) 0.00051
Trans-Omics for Precision Medicine (TOPMed) 0.00007
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
dbSNP: rs115150240
ClinGen: CA311178
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jun 2, 2020 RCV000595276.4
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Oct 14, 2019 RCV000726382.3
Uncertain significance 1 criteria provided, single submitter Dec 22, 2017 RCV000467913.3
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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 - - GRCh38
GRCh37
7416 17422
TTN-AS1 - - - GRCh38 - 9782

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 11, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000237926.3
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Dec 22, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000542332.3
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Jun 02, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000701382.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jun 02, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001477103.1
Submitted: (Dec 30, 2020)
Evidence details
Uncertain significance
(Oct 14, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001715742.1
Submitted: (May 26, 2021)
Evidence details
Uncertain significance
(Jan 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152583.6
Submitted: (Jul 04, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs115150240...

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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 Jul 10, 2021