Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Oct 1, 2021)
Last evaluated:
Nov 10, 2020
Accession:
VCV000166074.3
Variation ID:
166074
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr)

Allele ID
173173
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178637393 (GRCh38) GRCh38 UCSC
2: 179502120 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.198410G>A
NM_001256850.1:c.35980G>A NP_001243779.1:p.Ala11994Thr missense
NM_133378.4:c.33199G>A NP_596869.4:p.Ala11067Thr missense
... more HGVS
Protein change
A11067T, A13635T, A11994T, A4762T, A4570T, A4695T
Other names
p.A11994T:GCC>ACC
Canonical SPDI
NC_000002.12:178637392:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00034
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00028
Trans-Omics for Precision Medicine (TOPMed) 0.00037
Exome Aggregation Consortium (ExAC) 0.00023
The Genome Aggregation Database (gnomAD), exomes 0.00006
The Genome Aggregation Database (gnomAD) 0.00029
Trans-Omics for Precision Medicine (TOPMed) 0.00034
Links
ClinGen: CA178861
dbSNP: rs191699632
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 1, 2014 RCV000152356.6
Uncertain significance 1 criteria provided, single submitter May 31, 2017 RCV000556771.1
Likely benign 1 criteria provided, single submitter Nov 10, 2020 RCV001719941.1
Help
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
7705 17950

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 31, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000643130.1
Submitted: (Oct 05, 2017)
Evidence details
Uncertain significance
(May 01, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000201275.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The Ala11067Thr var iant in TTN has not been previously reported in individuals with cardiomyopathy, but has … (more)
Likely benign
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000237146.9
Submitted: (Oct 01, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs191699632...

Help
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 Nov 27, 2021