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NM_001032283.3(TMPO):c.115C>T (p.Gln39Ter) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 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:
RCV000520416.1

Allele description [Variation Report for NM_001032283.3(TMPO):c.115C>T (p.Gln39Ter)]

NM_001032283.3(TMPO):c.115C>T (p.Gln39Ter)

Genes:
TMPO-AS1:TMPO antisense RNA 1 [Gene - HGNC]
TMPO:thymopoietin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.1
Genomic location:
Preferred name:
NM_001032283.3(TMPO):c.115C>T (p.Gln39Ter)
HGVS:
  • NC_000012.12:g.98515982C>T
  • NG_021393.1:g.5410C>T
  • NM_001032283.3:c.115C>TMANE SELECT
  • NM_001032284.3:c.115C>T
  • NM_001307975.2:c.115C>T
  • NM_003276.2:c.115C>T
  • NP_001027454.1:p.Gln39Ter
  • NP_001027455.1:p.Gln39Ter
  • NP_001294904.1:p.Gln39Ter
  • NP_003267.1:p.Gln39Ter
  • LRG_443t2:c.115C>T
  • LRG_443:g.5410C>T
  • LRG_443p2:p.Gln39Ter
  • NC_000012.11:g.98909760C>T
Protein change:
Q39*
Links:
dbSNP: rs1555201577
NCBI 1000 Genomes Browser:
rs1555201577
Molecular consequence:
  • NM_001032283.3:c.115C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001032284.3:c.115C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001307975.2:c.115C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003276.2:c.115C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000619331GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 19, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000619331.2

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

Description

The Q39X variant of uncertain significance in the TMPO gene has not been reported as a pathogenic or benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Q39X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Nevertheless, no other nonsense variants in the TMPO gene have been reported in Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014), indicating that haploinsufficiency of TMPO may not be sufficient to cause disease. Thus, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Apr 23, 2022