NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 17, 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:: RCV004037591.1

Allele description [Variation Report for NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg)]

NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg)

Gene:

TMPO:thymopoietin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.1

Genomic location:

Preferred name:

NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg)

HGVS:

NC_000012.12:g.98527998C>G
NG_021393.1:g.17426C>G
NM_001032283.3:c.392C>GMANE SELECT
NM_001032284.3:c.392C>G
NM_001307975.2:c.392C>G
NM_003276.2:c.392C>G
NP_001027454.1:p.Pro131Arg
NP_001027455.1:p.Pro131Arg
NP_001294904.1:p.Pro131Arg
NP_003267.1:p.Pro131Arg
LRG_443t2:c.392C>G
LRG_443:g.17426C>G
LRG_443p2:p.Pro131Arg
NC_000012.11:g.98921776C>G

Protein change:

P131R

Links:

dbSNP: rs1001615865

NCBI 1000 Genomes Browser:

rs1001615865

Molecular consequence:

NM_001032283.3:c.392C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001032284.3:c.392C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001307975.2:c.392C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003276.2:c.392C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002624932	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 17, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002624932

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 17, 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, SCV002624932.2

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

Description

The p.P131R variant (also known as c.392C>G), located in coding exon 2 of the TMPO gene, results from a C to G substitution at nucleotide position 392. The proline at codon 131 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, 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: Feb 25, 2025

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