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NM_001018005.2(TPM1):c.257C>G (p.Ala86Gly) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 19, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000208058.1

Allele description [Variation Report for NM_001018005.2(TPM1):c.257C>G (p.Ala86Gly)]

NM_001018005.2(TPM1):c.257C>G (p.Ala86Gly)

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.257C>G (p.Ala86Gly)
HGVS:
  • NC_000015.10:g.63057001C>G
  • NG_007557.1:g.19363C>G
  • NM_000366.6:c.257C>G
  • NM_001018004.2:c.257C>G
  • NM_001018005.2:c.257C>GMANE SELECT
  • NM_001018006.2:c.257C>G
  • NM_001018007.2:c.257C>G
  • NM_001018008.2:c.149C>G
  • NM_001018020.2:c.257C>G
  • NM_001301244.2:c.257C>G
  • NM_001301289.2:c.149C>G
  • NM_001330344.2:c.149C>G
  • NM_001330346.2:c.149C>G
  • NM_001330351.2:c.149C>G
  • NM_001365776.1:c.257C>G
  • NM_001365777.1:c.257C>G
  • NM_001365778.1:c.383C>G
  • NM_001365779.1:c.257C>G
  • NM_001365780.1:c.149C>G
  • NM_001365781.2:c.149C>G
  • NM_001365782.1:c.149C>G
  • NP_000357.3:p.Ala86Gly
  • NP_001018004.1:p.Ala86Gly
  • NP_001018005.1:p.Ala86Gly
  • NP_001018006.1:p.Ala86Gly
  • NP_001018007.1:p.Ala86Gly
  • NP_001018008.1:p.Ala50Gly
  • NP_001018020.1:p.Ala86Gly
  • NP_001288173.1:p.Ala86Gly
  • NP_001288218.1:p.Ala50Gly
  • NP_001317273.1:p.Ala50Gly
  • NP_001317275.1:p.Ala50Gly
  • NP_001317280.1:p.Ala50Gly
  • NP_001352705.1:p.Ala86Gly
  • NP_001352706.1:p.Ala86Gly
  • NP_001352707.1:p.Ala128Gly
  • NP_001352708.1:p.Ala86Gly
  • NP_001352709.1:p.Ala50Gly
  • NP_001352710.1:p.Ala50Gly
  • NP_001352711.1:p.Ala50Gly
  • LRG_387t1:c.257C>G
  • LRG_387:g.19363C>G
  • LRG_387p1:p.Ala86Gly
  • NC_000015.9:g.63349200C>G
  • NM_001018005.1:c.257C>G
Protein change:
A128G
Links:
dbSNP: rs757577112
NCBI 1000 Genomes Browser:
rs757577112
Molecular consequence:
  • NM_000366.6:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018008.2:c.149C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301289.2:c.149C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330344.2:c.149C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330346.2:c.149C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330351.2:c.149C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.383C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.257C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365780.1:c.149C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365781.2:c.149C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365782.1:c.149C>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000264260Blueprint Genetics
criteria provided, single submitter

(Variant Classification)
Uncertain significance
(Oct 19, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000264260.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024