NM_001032283.3(TMPO):c.232G>C (p.Gly78Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 9, 2014
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:: RCV000183965.2

Allele description [Variation Report for NM_001032283.3(TMPO):c.232G>C (p.Gly78Arg)]

NM_001032283.3(TMPO):c.232G>C (p.Gly78Arg)

Genes:

LOC130008520:ATAC-STARR-seq lymphoblastoid silent region 4752 [Gene]
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.232G>C (p.Gly78Arg)

Other names:

p.G78R:GGC>CGC

HGVS:

NC_000012.12:g.98516099G>C
NG_021393.1:g.5527G>C
NM_001032283.3:c.232G>CMANE SELECT
NM_001032284.3:c.232G>C
NM_001307975.2:c.232G>C
NM_003276.2:c.232G>C
NP_001027454.1:p.Gly78Arg
NP_001027455.1:p.Gly78Arg
NP_001294904.1:p.Gly78Arg
NP_003267.1:p.Gly78Arg
LRG_443t2:c.232G>C
LRG_443:g.5527G>C
LRG_443p2:p.Gly78Arg
NC_000012.11:g.98909877G>C
NR_027157.1:n.128C>G

Protein change:

G78R

Links:

dbSNP: rs794729184

NCBI 1000 Genomes Browser:

rs794729184

Molecular consequence:

NM_001032283.3:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001032284.3:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001307975.2:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003276.2:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_027157.1:n.128C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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OmpA family protein [Lysobacter alkalisoli]
OmpA family protein [Lysobacter alkalisoli]
gi|1697109684|gnl|PRJNA550965|FKV23 5|gb|QDH71939.1|

Protein
Slc22a5 solute carrier family 22 (organic cation transporter), member 5 [Mus mus...
Slc22a5 solute carrier family 22 (organic cation transporter), member 5 [Mus musculus]
Gene ID:20520

Gene
CYB561D2 cytochrome b561 family member D2 [Homo sapiens]
CYB561D2 cytochrome b561 family member D2 [Homo sapiens]
Gene ID:11068

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000236458	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 9, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000236458

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 9, 2014)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000236458.10

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

Description

The G78R variant in the TMPO gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The G78R variant was not observed in approximately 5,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G78R variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. The G78 residue is conserved mostly in mammals. In silico analysis predicts G78R is probably damaging to the protein structure/function. However, no mutations in nearby residues have been reported in association with cardiomyopathy, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if G78R is a disease-causing mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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

Last Updated: Oct 14, 2023

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