NM_022154.5(SLC39A8):c.610G>T AND CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn

Clinical significance:Pathogenic (Last evaluated: Dec 3, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000203248.2

Allele description

NM_022154.5(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_022154.5(SLC39A8):c.610G>T (p.Gly204Cys)
HGVS:
  • NC_000004.12:g.102305054C>A
  • NG_047177.1:g.45445G>T
  • NM_022154.5:c.610G>T
  • NP_071437.3:p.Gly204Cys
  • 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
Allele Frequency:
0.00007(A)
Molecular consequence:
  • NM_022154.5:c.610G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (CDG2N)
Synonyms:
CDG IIn
Identifiers:
MedGen: C4225234; OMIM: 616721

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000258312OMIMno assertion criteria providedPathogenic
(Dec 3, 2015)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

Park JH, Hogrebe M, Gr√ľneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, H√∂rtnagel 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

Last Updated: Dec 1, 2017