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NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) AND Primary dilated cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 1, 2008
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000036318.2

Allele description

NM_001018005.2(TPM1):c.23T>G (p.Met8Arg)

Gene:
TPM1:tropomyosin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg)
HGVS:
  • NC_000015.10:g.63042852T>G
  • NG_007557.1:g.5214T>G
  • NM_000366.6:c.23T>G
  • NM_001018004.2:c.23T>G
  • NM_001018005.2:c.23T>GMANE SELECT
  • NM_001018006.2:c.23T>G
  • NM_001018007.2:c.23T>G
  • NM_001018020.2:c.23T>G
  • NM_001301244.2:c.23T>G
  • NM_001365776.1:c.23T>G
  • NM_001365777.1:c.23T>G
  • NM_001365778.1:c.23T>G
  • NM_001365779.1:c.23T>G
  • NP_000357.3:p.Met8Arg
  • NP_001018004.1:p.Met8Arg
  • NP_001018005.1:p.Met8Arg
  • NP_001018006.1:p.Met8Arg
  • NP_001018007.1:p.Met8Arg
  • NP_001018020.1:p.Met8Arg
  • NP_001288173.1:p.Met8Arg
  • NP_001352705.1:p.Met8Arg
  • NP_001352706.1:p.Met8Arg
  • NP_001352707.1:p.Met8Arg
  • NP_001352708.1:p.Met8Arg
  • LRG_387t1:c.23T>G
  • LRG_387:g.5214T>G
  • LRG_387p1:p.Met8Arg
  • NC_000015.9:g.63335051T>G
  • NM_000366.5:c.23T>G
  • c.23T>G
Protein change:
M8R
Links:
dbSNP: rs397516364
NCBI 1000 Genomes Browser:
rs397516364
Molecular consequence:
  • NM_000366.6:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000059970Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
no assertion criteria provided
Likely pathogenic
(Mar 1, 2008) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.

Moraczewska J, Greenfield NJ, Liu Y, Hitchcock-DeGregori SE.

Biophys J. 2000 Dec;79(6):3217-25.

PubMed [citation]
PMID:
11106625
PMCID:
PMC1301196

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000059970.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Apr 8, 2022