NM_001382241.1(TNPO2):c.2677G>A (p.Ala893Thr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 14, 2022
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:: RCV002901523.2

Allele description [Variation Report for NM_001382241.1(TNPO2):c.2677G>A (p.Ala893Thr)]

NM_001382241.1(TNPO2):c.2677G>A (p.Ala893Thr)

Genes:

LOC126862859:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:12811952-12813151 [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.2677G>A (p.Ala893Thr)

HGVS:

NC_000019.10:g.12701363C>T
NG_087356.1:g.326C>T
NM_001136195.2:c.2647G>A
NM_001136196.2:c.2677G>A
NM_001382236.1:c.2647G>A
NM_001382237.1:c.2647G>A
NM_001382238.1:c.2647G>A
NM_001382239.1:c.2647G>A
NM_001382240.1:c.2677G>A
NM_001382241.1:c.2677G>AMANE SELECT
NM_001382242.1:c.2677G>A
NM_001382243.1:c.2641G>A
NM_013433.5:c.2647G>A
NP_001129667.1:p.Ala883Thr
NP_001129668.1:p.Ala893Thr
NP_001369165.1:p.Ala883Thr
NP_001369166.1:p.Ala883Thr
NP_001369167.1:p.Ala883Thr
NP_001369168.1:p.Ala883Thr
NP_001369169.1:p.Ala893Thr
NP_001369170.1:p.Ala893Thr
NP_001369171.1:p.Ala893Thr
NP_001369172.1:p.Ala881Thr
NP_038461.2:p.Ala883Thr
NC_000019.9:g.12812177C>T
NM_001136196.1:c.2677G>A
NR_167974.1:n.2788G>A
NR_167975.1:n.2913G>A
NR_167976.1:n.2942G>A
NR_167977.1:n.2912G>A
NR_167978.1:n.2489G>A
NR_167979.1:n.2757G>A

Protein change:

A881T

Molecular consequence:

NM_001136195.2:c.2647G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001136196.2:c.2677G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382236.1:c.2647G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382237.1:c.2647G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382238.1:c.2647G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382239.1:c.2647G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382240.1:c.2677G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382241.1:c.2677G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382242.1:c.2677G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382243.1:c.2641G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_013433.5:c.2647G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_167974.1:n.2788G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167975.1:n.2913G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167976.1:n.2942G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167977.1:n.2912G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167978.1:n.2489G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167979.1:n.2757G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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GPL4634[Accession] (14)
GEO DataSets
cold shock protein [Mesorhizobium loti MAFF303099]
cold shock protein [Mesorhizobium loti MAFF303099]
gi|13472379|ref|NP_103946.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003638049	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 14, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003638049

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 14, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003638049.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.2677G>A (p.A893T) alteration is located in exon 24 (coding exon 23) of the TNPO2 gene. This alteration results from a G to A substitution at nucleotide position 2677, causing the alanine (A) at amino acid position 893 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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