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NM_001018005.2(TPM1):c.267C>G (p.Asn89Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV000489107.1

Allele description [Variation Report for NM_001018005.2(TPM1):c.267C>G (p.Asn89Lys)]

NM_001018005.2(TPM1):c.267C>G (p.Asn89Lys)

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.267C>G (p.Asn89Lys)
HGVS:
  • NC_000015.10:g.63057011C>G
  • NG_007557.1:g.19373C>G
  • NM_000366.6:c.267C>G
  • NM_001018004.2:c.267C>G
  • NM_001018005.2:c.267C>GMANE SELECT
  • NM_001018006.2:c.267C>G
  • NM_001018007.2:c.267C>G
  • NM_001018008.2:c.159C>G
  • NM_001018020.2:c.267C>G
  • NM_001301244.2:c.267C>G
  • NM_001301289.2:c.159C>G
  • NM_001330344.2:c.159C>G
  • NM_001330346.2:c.159C>G
  • NM_001330351.2:c.159C>G
  • NM_001365776.1:c.267C>G
  • NM_001365777.1:c.267C>G
  • NM_001365778.1:c.393C>G
  • NM_001365779.1:c.267C>G
  • NM_001365780.1:c.159C>G
  • NM_001365781.2:c.159C>G
  • NM_001365782.1:c.159C>G
  • NP_000357.3:p.Asn89Lys
  • NP_001018004.1:p.Asn89Lys
  • NP_001018005.1:p.Asn89Lys
  • NP_001018006.1:p.Asn89Lys
  • NP_001018007.1:p.Asn89Lys
  • NP_001018008.1:p.Asn53Lys
  • NP_001018020.1:p.Asn89Lys
  • NP_001288173.1:p.Asn89Lys
  • NP_001288218.1:p.Asn53Lys
  • NP_001317273.1:p.Asn53Lys
  • NP_001317275.1:p.Asn53Lys
  • NP_001317280.1:p.Asn53Lys
  • NP_001352705.1:p.Asn89Lys
  • NP_001352706.1:p.Asn89Lys
  • NP_001352707.1:p.Asn131Lys
  • NP_001352708.1:p.Asn89Lys
  • NP_001352709.1:p.Asn53Lys
  • NP_001352710.1:p.Asn53Lys
  • NP_001352711.1:p.Asn53Lys
  • LRG_387t1:c.267C>G
  • LRG_387:g.19373C>G
  • LRG_387p1:p.Asn89Lys
  • NC_000015.9:g.63349210C>G
  • NM_001018005.1:c.267C>G
Protein change:
N131K
Links:
dbSNP: rs1085307487
NCBI 1000 Genomes Browser:
rs1085307487
Molecular consequence:
  • NM_000366.6:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018008.2:c.159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301289.2:c.159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330344.2:c.159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330346.2:c.159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330351.2:c.159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.393C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.267C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365780.1:c.159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365781.2:c.159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365782.1:c.159C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000576560GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000576560.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The N89K variant has not been published as pathogenic or been reported as benign to our knowledge. The N89K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N89K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, missense variants in nearby residues (D84N, V85I, L88M, I92T, V95A) have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014), and/or reported as likely pathogenic/pathogenic by at least one clinical laboratory.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024