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NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 10, 2020
Accession:
VCV000047654.7
Variation ID:
47654
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)

Allele ID
56818
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178533878 (GRCh38) GRCh38 UCSC
2: 179398605 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179398605C>T
NC_000002.12:g.178533878C>T
NM_001267550.2:c.102737G>A MANE Select NP_001254479.2:p.Arg34246His missense
... more HGVS
Protein change
R34246H, R31678H, R32605H, R25181H, R25373H, R25306H
Other names
-
Canonical SPDI
NC_000002.12:178533877:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Exome Aggregation Consortium (ExAC) 0.00080
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00076
Links
ClinGen: CA141618
dbSNP: rs372716177
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 10, 2020 RCV000462618.6
Uncertain significance 1 criteria provided, single submitter - RCV001293170.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 12, 2017 RCV000040923.3
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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
7416 17422
TTN-AS1 - - - GRCh38 - 9782

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 19, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064614.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Arg31678His variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, … (more)
Likely benign
(Sep 12, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000713901.1
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
(-)
criteria provided, single submitter
Method: research
Primary dilated cardiomyopathy
Allele origin: unknown
Genetics and Genomics Program,Sidra Medicine
Accession: SCV001434167.1
Submitted: (Aug 26, 2020)
Evidence details
Benign
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555335.6
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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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 rs372716177...

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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 29, 2021