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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

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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

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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