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NM_021252.4(RAB18):c.284C>G (p.Thr95Arg) AND Warburg micro syndrome 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000087132.3

Allele description

NM_021252.4(RAB18):c.284C>G (p.Thr95Arg)

Gene:
RAB18:RAB18, member RAS oncogene family [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p12.1
Genomic location:
Preferred name:
NM_021252.4(RAB18):c.284C>G (p.Thr95Arg)
HGVS:
  • NC_000010.11:g.27533759C>G
  • NG_032035.1:g.34586C>G
  • NM_001256412.1:c.187-169C>G
  • NM_021252.4:c.284C>G
  • NP_067075.1:p.Thr95Arg
  • NC_000010.10:g.27822688C>G
  • NR_046172.1:n.418C>G
Protein change:
T95R; THR95ARG
Links:
OMIM: 602207.0005; dbSNP: rs587777151
NCBI 1000 Genomes Browser:
rs587777151
Molecular consequence:
  • NM_001256412.1:c.187-169C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021252.4:c.284C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046172.1:n.418C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Warburg micro syndrome 3 (WARBM3)
Synonyms:
MICRO SYNDROME 3
Identifiers:
MedGen: C3280203; Orphanet: 2510; OMIM: 614222

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000119993OMIM
no assertion criteria provided
Pathogenic
(May 1, 2013) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, et al.

Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296.

PubMed [citation]
PMID:
23420520

Details of each submission

From OMIM, SCV000119993.1

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

Description

In a 4-year-old Egyptian girl with Warburg Micro syndrome-3 (WARBM3; 614222), Handley et al. (2013) identified homozygosity for a c.284C-G transversion in exon 5 of the RAB18 gene, resulting in a thr95-to-arg (T95R) substitution at a conserved residue within the alpha-3 helix. The mutation segregated with disease in the family and was not present in 400 control chromosomes. Handley et al. (2013) noted that the patient exhibited all the features of 'classic' Warburg Micro syndrome.

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

Last Updated: Jan 11, 2018