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.72001G>A (p.Ala24001Thr)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 24, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000202324.6
Variation ID:
202324
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)

Allele ID
199050
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178574131 (GRCh38) GRCh38 UCSC
2: 179438858 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001256850.1:c.67078G>A NP_001243779.1:p.Ala22360Thr missense
LRG_391:g.261672G>A
NC_000002.11:g.179438858C>T
... more HGVS
Protein change
A21433T, A24001T, A22360T, A14936T, A15128T, A15061T
Other names
p.A21433T:GCC>ACC
Canonical SPDI
NC_000002.12:178574130:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00033
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00051
The Genome Aggregation Database (gnomAD), exomes 0.00013
Exome Aggregation Consortium (ExAC) 0.00017
Trans-Omics for Precision Medicine (TOPMed) 0.00029
Links
ClinGen: CA309088
dbSNP: rs180828370
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Oct 1, 2020 RCV000184164.4
Likely benign 1 criteria provided, single submitter Dec 1, 2020 RCV001088146.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 17, 2020 RCV000727333.4
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
7638 17883
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 17, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000236783.10
Submitted: (Sep 24, 2021)
Evidence details
Uncertain significance
(Dec 14, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000707603.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001442595.1
Submitted: (Nov 10, 2020)
Evidence details
Comment:
Variant summary: TTN c.64297G>A (p.Ala21433Thr) results in a non-conservative amino acid change located in the A-band domain of the encoded protein sequence. Four of four … (more)
Likely benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000643622.5
Submitted: (Jan 07, 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
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs180828370...

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 20, 2021