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.41609-2A>C

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 14, 2017)
Last evaluated:
Nov 4, 2016
Accession:
VCV000180578.1
Variation ID:
180578
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.41609-2A>C

Allele ID
178484
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178635717 (GRCh38) GRCh38 UCSC
2: 179500444 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179500444T>G
NC_000002.12:g.178635717T>G
NM_003319.4:c.14414-2A>C splice acceptor
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA346771
dbSNP: rs730880244
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 Nov 4, 2016 RCV000468208.1
Likely pathogenic 1 no assertion criteria provided Sep 29, 2014 RCV000157572.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN - - GRCh38
GRCh37
5671 13149

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 04, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000542627.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change affects an acceptor splice site in intron 226 of the TTN gene. It is expected to disrupt RNA splicing and likely results ... (more)
Likely pathogenic
(Sep 29, 2014)
no assertion criteria provided
Method: clinical testing
Primary dilated cardiomyopathy
Allele origin: germline
Blueprint Genetics
Accession: SCV000207318.1
Submitted: (Feb 02, 2015)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019