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NM_001018005.2(TPM1):c.522C>T (p.Ser174=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(3);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Sep 3, 2021)
Last evaluated:
Nov 30, 2020
Accession:
VCV000043422.9
Variation ID:
43422
Description:
single nucleotide variant
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NM_001018005.2(TPM1):c.522C>T (p.Ser174=)

Allele ID
52592
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q22.2
Genomic location
15: 63060898 (GRCh38) GRCh38 UCSC
15: 63353097 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_387:g.23260C>T
LRG_387t1:c.522C>T LRG_387p1:p.Ser174=
NC_000015.10:g.63060898C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:63060897:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00010
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Links
ClinGen: CA018100
dbSNP: rs200173919
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 3, 2018 RCV000777777.3
Likely benign 1 criteria provided, single submitter Aug 29, 2007 RCV000036339.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000312289.3
Likely benign 1 criteria provided, single submitter Nov 30, 2020 RCV000350673.7
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001094326.2
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001705660.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TPM1 No evidence available No evidence available GRCh38
GRCh37
537 585

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 30, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000558816.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 09, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV000913748.1
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Aug 29, 2007)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059991.6
Submitted: (Mar 21, 2019)
Evidence details
Benign
(Aug 03, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001333155.1
Submitted: (Mar 03, 2020)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypertrophic cardiomyopathy 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000393212.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1Y
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000393211.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001827307.1
Submitted: (Sep 03, 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 rs200173919...

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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 Nov 27, 2021