NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 10, 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:: RCV004025038.1

Allele description [Variation Report for NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser)]

NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser)

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.154C>T (p.Pro52Ser)

HGVS:

NC_000012.12:g.98516021C>T
NG_021393.1:g.5449C>T
NM_001032283.3:c.154C>TMANE SELECT
NM_001032284.3:c.154C>T
NM_001307975.2:c.154C>T
NM_003276.2:c.154C>T
NP_001027454.1:p.Pro52Ser
NP_001027455.1:p.Pro52Ser
NP_001294904.1:p.Pro52Ser
NP_003267.1:p.Pro52Ser
LRG_443t2:c.154C>T
LRG_443:g.5449C>T
LRG_443p2:p.Pro52Ser
NC_000012.11:g.98909799C>T
NR_027157.1:n.206G>A

Protein change:

P52S

Links:

dbSNP: rs767796798

NCBI 1000 Genomes Browser:

rs767796798

Molecular consequence:

NM_001032283.3:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001032284.3:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001307975.2:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003276.2:c.154C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_027157.1:n.206G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000736392	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000736392

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 10, 2023)

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, SCV000736392.5

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

Description

The p.P52S variant (also known as c.154C>T), located in coding exon 1 of the TMPO gene, results from a C to T substitution at nucleotide position 154. The proline at codon 52 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Nov 3, 2024

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