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NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 10, 2018
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:
RCV000827031.1

Allele description [Variation Report for NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp)]

NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp)

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.118C>T (p.Arg40Trp)
HGVS:
  • NC_000011.10:g.47410212C>T
  • NG_017073.1:g.6718C>T
  • NM_001128225.3:c.118C>TMANE SELECT
  • NM_001330245.2:c.118C>T
  • NM_152264.5:c.118C>T
  • NP_001121697.2:p.Arg40Trp
  • NP_001317174.2:p.Arg40Trp
  • NP_689477.2:p.Arg40Trp
  • NP_689477.3:p.Arg40Trp
  • NC_000011.9:g.47431763C>T
  • NM_152264.4:c.118C>T
  • NR_134854.1:n.384C>T
Protein change:
R40W
Links:
dbSNP: rs368796707
NCBI 1000 Genomes Browser:
rs368796707
Molecular consequence:
  • NM_001128225.3:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330245.2:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152264.5:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134854.1:n.384C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000968643GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(May 10, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000968643.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024