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NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 24, 2023
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:
RCV000766949.2

Allele description [Variation Report for NM_001018005.2(TPM1):c.548C>T (p.Ala183Val)]

NM_001018005.2(TPM1):c.548C>T (p.Ala183Val)

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.548C>T (p.Ala183Val)
Other names:
p.A183V:GCT>GTT
HGVS:
  • NC_000015.10:g.63060924C>T
  • NG_007557.1:g.23286C>T
  • NM_000366.6:c.548C>T
  • NM_001018004.2:c.548C>T
  • NM_001018005.2:c.548C>TMANE SELECT
  • NM_001018006.2:c.548C>T
  • NM_001018007.2:c.548C>T
  • NM_001018008.2:c.440C>T
  • NM_001018020.2:c.548C>T
  • NM_001301244.2:c.548C>T
  • NM_001301289.2:c.440C>T
  • NM_001330344.2:c.440C>T
  • NM_001330346.2:c.440C>T
  • NM_001330351.2:c.440C>T
  • NM_001365776.1:c.548C>T
  • NM_001365777.1:c.548C>T
  • NM_001365778.1:c.674C>T
  • NM_001365779.1:c.548C>T
  • NM_001365780.1:c.440C>T
  • NM_001365781.2:c.440C>T
  • NM_001365782.1:c.440C>T
  • NP_000357.3:p.Ala183Val
  • NP_001018004.1:p.Ala183Val
  • NP_001018005.1:p.Ala183Val
  • NP_001018006.1:p.Ala183Val
  • NP_001018007.1:p.Ala183Val
  • NP_001018008.1:p.Ala147Val
  • NP_001018020.1:p.Ala183Val
  • NP_001288173.1:p.Ala183Val
  • NP_001288218.1:p.Ala147Val
  • NP_001317273.1:p.Ala147Val
  • NP_001317275.1:p.Ala147Val
  • NP_001317280.1:p.Ala147Val
  • NP_001352705.1:p.Ala183Val
  • NP_001352706.1:p.Ala183Val
  • NP_001352707.1:p.Ala225Val
  • NP_001352708.1:p.Ala183Val
  • NP_001352709.1:p.Ala147Val
  • NP_001352710.1:p.Ala147Val
  • NP_001352711.1:p.Ala147Val
  • LRG_387t1:c.548C>T
  • LRG_387:g.23286C>T
  • LRG_387p1:p.Ala183Val
  • NC_000015.9:g.63353123C>T
  • NM_000366.5:c.548C>T
  • NM_001018005.1:c.548C>T
  • c.548C>T
Protein change:
A147V
Links:
dbSNP: rs397516376
NCBI 1000 Genomes Browser:
rs397516376
Molecular consequence:
  • NM_000366.6:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018008.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301289.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330344.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330346.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330351.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365780.1:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365781.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365782.1:c.440C>T - 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
SCV000209314GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 24, 2023) 		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, SCV000209314.14

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

Description

Reported in association with HCM in published literature (Lopes et al., 2015; Alfares et al., 2015; Walsh et al., 2017; Burns et al., 2017; Ross et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28790153, 28408708, 28615295, 25351510, 36243179, 25611685, 27532257)

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

Last Updated: May 1, 2024