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NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 28, 2020
Accession:
VCV000165766.8
Variation ID:
165766
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)

Allele ID
173092
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178556857 (GRCh38) GRCh38 UCSC
2: 179421584 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001256850.1:c.83374G>A NP_001243779.1:p.Asp27792Asn missense
NM_003319.4:c.61102G>A NP_003310.4:p.Asp20368Asn missense
NM_133378.4:c.80593G>A NP_596869.4:p.Asp26865Asn missense
... more HGVS
Protein change
D26865N, D29433N, D27792N, D20368N, D20493N, D20560N
Other names
p.D27792N:GAT>AAT
Canonical SPDI
NC_000002.12:178556856:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00043
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00116
1000 Genomes Project 0.00120
The Genome Aggregation Database (gnomAD) 0.00121
Trans-Omics for Precision Medicine (TOPMed) 0.00157
Links
ClinGen: CA178456
dbSNP: rs189202799
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 3 criteria provided, multiple submitters, no conflicts Oct 10, 2017 RCV000152196.4
Likely benign 1 criteria provided, single submitter Jul 9, 2018 RCV000619720.1
Benign 1 criteria provided, single submitter Jul 20, 2018 RCV000714109.4
Benign 1 criteria provided, single submitter Nov 28, 2020 RCV001081700.2
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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
Likely benign
(Oct 10, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000237695.3
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)
Likely benign
(Oct 31, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000200947.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Asp26865Asn in exon 279 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (45/9664) of … (more)
Benign
(Jul 20, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844782.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Aug 19, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336611.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jul 09, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736509.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Subpopulation frequency in support of benign classification
Benign
(Nov 28, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555384.6
Submitted: (Jan 07, 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 rs189202799...

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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