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NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jun 3, 2020)
Last evaluated:
Feb 27, 2019
Accession:
VCV000166330.3
Variation ID:
166330
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn)

Allele ID
173608
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178781199 (GRCh38) GRCh38 UCSC
2: 179645926 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179645926C>T
NC_000002.12:g.178781199C>T
NM_001267550.2:c.3445G>A MANE Select NP_001254479.2:p.Asp1149Asn missense
... more HGVS
Protein change
D1149N, D1103N
Other names
-
Canonical SPDI
NC_000002.12:178781198:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00001
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA179371
dbSNP: rs368967197
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 27, 2019 RCV000152516.4
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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
7705 17950

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 30, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000725476.1
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
(Feb 27, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000201696.6
Submitted: (Jun 03, 2020)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The p.Asp1149Asn variant in TTN has been identified in 1 individual with DCM who also had an … (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 rs368967197...

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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 07, 2021