NM_033409.4(SLC52A3):c.833C>G (p.Thr278Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 2020
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:: RCV002436552.2

Allele description [Variation Report for NM_033409.4(SLC52A3):c.833C>G (p.Thr278Arg)]

NM_033409.4(SLC52A3):c.833C>G (p.Thr278Arg)

Gene:

SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

Preferred name:

NM_033409.4(SLC52A3):c.833C>G (p.Thr278Arg)

HGVS:

NC_000020.11:g.763738G>C
NG_027687.2:g.17248C>G
NM_001370085.1:c.833C>G
NM_001370086.1:c.833C>G
NM_033409.4:c.833C>GMANE SELECT
NP_001357014.1:p.Thr278Arg
NP_001357015.1:p.Thr278Arg
NP_212134.3:p.Thr278Arg
LRG_1394t1:c.833C>G
LRG_1394:g.17248C>G
LRG_1394p1:p.Thr278Arg
NC_000020.10:g.744382G>C
NG_027687.1:g.9847C>G
NM_033409.3:c.833C>G

Protein change:

T278R

Links:

dbSNP: rs3746803

NCBI 1000 Genomes Browser:

rs3746803

Molecular consequence:

NM_001370085.1:c.833C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370086.1:c.833C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033409.4:c.833C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002676613	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 4, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002676613

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 4, 2020)

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, SCV002676613.2

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

Description

The p.T278R variant (also known as c.833C>G), located in coding exon 2 of the SLC52A3 gene, results from a C to G substitution at nucleotide position 833. The threonine at codon 278 is replaced by arginine, an amino acid with similar properties. This amino acid position is poorly conserved in available 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: May 1, 2024

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