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NM_001267550.2(TTN):c.101708G>A (p.Arg33903His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 25, 2021)
Last evaluated:
Nov 17, 2020
Accession:
VCV000191823.5
Variation ID:
191823
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.101708G>A (p.Arg33903His)

Allele ID
189430
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178534907 (GRCh38) GRCh38 UCSC
2: 179399634 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.300896G>A
NC_000002.11:g.179399634C>T
NC_000002.12:g.178534907C>T
... more HGVS
Protein change
R31335H, R33903H, R32262H, R24838H, R24963H, R25030H
Other names
-
Canonical SPDI
NC_000002.12:178534906:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00014
Exome Aggregation Consortium (ExAC) 0.00022
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD), exomes 0.00024
The Genome Aggregation Database (gnomAD) 0.00022
Links
ClinGen: CA237635
dbSNP: rs72629782
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 17, 2020 RCV001087093.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 20, 2020 RCV000172164.4
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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 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7638 17883
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 24, 2013)
criteria provided, single submitter
Method: research
Not provided
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000051094.1
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Evidence details
Likely benign
(Nov 17, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV001011168.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 20, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000713891.1
Submitted: (Sep 25, 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 rs72629782...

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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 Oct 08, 2021