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NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000047128.9
Variation ID:
47128
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)

Allele ID
56293
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178595671 (GRCh38) GRCh38 UCSC
2: 179460398 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.240132G>A
LRG_391t1:c.57683G>A
NM_133378.4:c.49979G>A NP_596869.4:p.Arg16660His missense
... more HGVS
Protein change
R19228H, R16660H, R17587H, R10163H, R10288H, R10355H
Other names
p.R17587H:CGC>CAC
Canonical SPDI
NC_000002.12:178595670:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (T)

Allele frequency
1000 Genomes Project 0.00260
The Genome Aggregation Database (gnomAD), exomes 0.00049
Exome Aggregation Consortium (ExAC) 0.00095
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00174
Trans-Omics for Precision Medicine (TOPMed) 0.00219
The Genome Aggregation Database (gnomAD) 0.00217
Links
ClinGen: CA140076
dbSNP: rs114711705
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 3 criteria provided, multiple submitters, no conflicts Aug 1, 2016 RCV000040398.4
Benign 1 criteria provided, single submitter Dec 27, 2018 RCV000458036.6
Benign 1 criteria provided, single submitter Jan 21, 2016 RCV000620713.1
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001083744.2
Likely benign 1 criteria provided, single submitter Aug 2, 2019 RCV001287315.1
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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
TTN-AS1 - - - GRCh38 - 9782

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 27, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001146443.1
Submitted: (Sep 25, 2019)
Evidence details
Likely benign
(Aug 02, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001473990.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555234.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 29, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000237337.13
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)
Benign
(Aug 01, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000203703.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 11, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064089.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Arg16660His in exon 244 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (19/3144) of … (more)
Benign
(Jan 21, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736535.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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 rs114711705...

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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 18, 2021