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NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) AND SLC39A8-CDG

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 4, 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:
RCV000203248.11

Allele description [Variation Report for NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)]

NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)

Gene:
SLC39A8:solute carrier family 39 member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q24
Genomic location:
Preferred name:
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
HGVS:
  • NC_000004.12:g.102305054C>A
  • NG_047177.1:g.45445G>T
  • NM_001135146.2:c.610G>TMANE SELECT
  • NM_001135147.1:c.610G>T
  • NM_001135148.2:c.409G>T
  • NM_022154.5:c.610G>T
  • NP_001128618.1:p.Gly204Cys
  • NP_001128619.1:p.Gly204Cys
  • NP_001128620.1:p.Gly137Cys
  • NP_071437.3:p.Gly204Cys
  • NC_000004.11:g.103226211C>A
  • NC_000004.11:g.103226211C>A
  • Q9C0K1:p.Gly204Cys
Protein change:
G137C; GLY204CYS
Links:
UniProtKB: Q9C0K1#VAR_076243; OMIM: 608732.0004; dbSNP: rs779241085
NCBI 1000 Genomes Browser:
rs779241085
Molecular consequence:
  • NM_001135146.2:c.610G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135147.1:c.610G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135148.2:c.409G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022154.5:c.610G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SLC39A8-CDG
Synonyms:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG IIn; SLC39A8 deficiency
Identifiers:
MONDO: MONDO:0014746; MedGen: C4225234; OMIM: 616721

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258312OMIM
no assertion criteria provided
Pathogenic
(Dec 3, 2015) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV002519779Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, et al.

Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003.

PubMed [citation]
PMID:
26637979
PMCID:
PMC4678430

Details of each submission

From OMIM, SCV000258312.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.610G-T transversion (c.610G-T, NM_022154.5) in the SLC39A8 gene, resulting in a gly204-to-cys (G204C) substitution, that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type IIn (CDG2N; 616721) by Park et al. (2015), see 608732.0003.

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

From Mendelics, SCV002519779.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024