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NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)

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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: Aug 5, 2021)
Last evaluated:
May 22, 2019
Accession:
VCV000212461.2
Variation ID:
212461
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)

Allele ID
206930
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178731539 (GRCh38) GRCh38 UCSC
2: 179596266 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179596266G>A
NC_000002.12:g.178731539G>A
NM_001267550.2:c.17227C>T MANE Select NP_001254479.2:p.Arg5743Trp missense
... more HGVS
Protein change
R4499W, R5743W, R5426W
Other names
-
Canonical SPDI
NC_000002.12:178731538:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA208675
dbSNP: rs377193479
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 Jan 22, 2015 RCV000194485.3
Uncertain significance 1 criteria provided, single submitter Nov 2, 2016 RCV000477015.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 22, 2019 RCV000725421.2
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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
7416 17422

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 22, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000249236.1
Submitted: (Sep 15, 2015)
Evidence details
Uncertain significance
(Nov 02, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000542356.2
Submitted: (Mar 14, 2017)
Evidence details
Likely benign
(May 22, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001773117.1
Submitted: (Aug 05, 2021)
Evidence details
Uncertain significance
(Nov 24, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336826.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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 rs377193479...

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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 Aug 17, 2021