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NM_001382241.1(TNPO2):c.466G>A (p.Asp156Asn) AND TNPO2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 4, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004728786.1

Allele description [Variation Report for NM_001382241.1(TNPO2):c.466G>A (p.Asp156Asn)]

NM_001382241.1(TNPO2):c.466G>A (p.Asp156Asn)

Gene:
TNPO2:transportin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_001382241.1(TNPO2):c.466G>A (p.Asp156Asn)
HGVS:
  • NC_000019.10:g.12715505C>T
  • NM_001136195.2:c.466G>A
  • NM_001136196.2:c.466G>A
  • NM_001382236.1:c.466G>A
  • NM_001382237.1:c.466G>A
  • NM_001382238.1:c.466G>A
  • NM_001382239.1:c.466G>A
  • NM_001382240.1:c.466G>A
  • NM_001382241.1:c.466G>AMANE SELECT
  • NM_001382242.1:c.466G>A
  • NM_001382243.1:c.466G>A
  • NM_013433.5:c.466G>A
  • NP_001129667.1:p.Asp156Asn
  • NP_001129668.1:p.Asp156Asn
  • NP_001369165.1:p.Asp156Asn
  • NP_001369166.1:p.Asp156Asn
  • NP_001369167.1:p.Asp156Asn
  • NP_001369168.1:p.Asp156Asn
  • NP_001369169.1:p.Asp156Asn
  • NP_001369170.1:p.Asp156Asn
  • NP_001369171.1:p.Asp156Asn
  • NP_001369172.1:p.Asp156Asn
  • NP_038461.2:p.Asp156Asn
  • NC_000019.9:g.12826319C>T
  • NM_001136196.1:c.466G>A
  • NR_167974.1:n.605G>A
  • NR_167975.1:n.760G>A
  • NR_167976.1:n.731G>A
  • NR_167977.1:n.731G>A
  • NR_167978.1:n.563G>A
  • NR_167979.1:n.576G>A
Protein change:
D156N; ASP156ASN
Links:
OMIM: 603002.0002; dbSNP: rs2145582779
NCBI 1000 Genomes Browser:
rs2145582779
Molecular consequence:
  • NM_001136195.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136196.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382236.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382237.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382238.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382239.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382240.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382241.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382242.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382243.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013433.5:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_167974.1:n.605G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_167975.1:n.760G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_167976.1:n.731G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_167977.1:n.731G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_167978.1:n.563G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_167979.1:n.576G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
TNPO2-related disorder
Synonyms:
TNPO2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005336684PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 4, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005336684.1

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

Description

The TNPO2 c.466G>A variant is predicted to result in the amino acid substitution p.Asp156Asn. This variant has been reported de novo in a patient with early infantile developmental and epileptic encephalopathy (EIDEE) (011, D'Gama et al. 2023. PubMed ID: 37596007). Functional studies of TNPO2 activity in Drosophila showed that this variant impacts function via a gain-of-function effects (Goodman et al. 2021. PubMed ID: 34314705. This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as pathogenic.

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

Last Updated: Oct 8, 2024