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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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002676613Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 4, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002676613.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024