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NM_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 22, 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:
RCV002561347.2

Allele description [Variation Report for NM_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp)]

NM_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp)

Gene:
SLC39A13:solute carrier family 39 member 13 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp)
HGVS:
  • NC_000011.10:g.47410206C>T
  • NG_017073.1:g.6712C>T
  • NM_001128225.3:c.112C>TMANE SELECT
  • NM_001330245.2:c.112C>T
  • NM_152264.4:c.112C>T
  • NM_152264.5:c.112C>T
  • NP_001121697.2:p.Arg38Trp
  • NP_001317174.2:p.Arg38Trp
  • NP_689477.3:p.Arg38Trp
  • NC_000011.9:g.47431757C>T
  • NR_134854.1:n.378C>T
Protein change:
R38W
Links:
dbSNP: rs149930229
NCBI 1000 Genomes Browser:
rs149930229
Molecular consequence:
  • NM_001128225.3:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330245.2:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152264.5:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134854.1:n.378C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003707766Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 22, 2022) 		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, SCV003707766.2

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

Description

The c.112C>T (p.R38W) alteration is located in exon 2 (coding exon 1) of the SLC39A13 gene. This alteration results from a C to T substitution at nucleotide position 112, causing the arginine (R) at amino acid position 38 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, 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