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NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) AND Griscelli syndrome type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2000
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:
RCV000006348.5

Allele description [Variation Report for NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly)]

NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly)

Gene:
RAB27A:RAB27A, member RAS oncogene family [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.3
Genomic location:
Preferred name:
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly)
HGVS:
  • NC_000015.10:g.55230423A>C
  • NG_009103.1:g.64381T>G
  • NM_004580.5:c.217T>G
  • NM_183234.2:c.217T>G
  • NM_183235.3:c.217T>GMANE SELECT
  • NM_183236.3:c.217T>G
  • NP_004571.2:p.Trp73Gly
  • NP_899057.1:p.Trp73Gly
  • NP_899058.1:p.Trp73Gly
  • NP_899059.1:p.Trp73Gly
  • LRG_96:g.64381T>G
  • NC_000015.9:g.55522621A>C
  • P51159:p.Trp73Gly
Protein change:
W73G; TRP73GLY
Links:
UniProtKB: P51159#VAR_010654; OMIM: 603868.0001; dbSNP: rs28938176
NCBI 1000 Genomes Browser:
rs28938176
Molecular consequence:
  • NM_004580.5:c.217T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183234.2:c.217T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183235.3:c.217T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183236.3:c.217T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Griscelli syndrome type 2 (GS2)
Synonyms:
Griscelli syndrome with hemophagocytic syndrome; Partial albinism and immunodeficiency syndrome
Identifiers:
MONDO: MONDO:0011872; MedGen: C1868679; Orphanet: 381; Orphanet: 79477; OMIM: 607624

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026530OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2000) 		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

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G.

Nat Genet. 2000 Jun;25(2):173-6.

PubMed [citation]
PMID:
10835631

Details of each submission

From OMIM, SCV000026530.4

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

Description

In a consanguineous Turkish family, Menasche et al. (2000) demonstrated that Griscelli syndrome with hemophagocytic syndrome (GS2; 607624) was due to a 217T-G transversion in exon 3 of the RAB27A gene resulting in a trp73-to-gly (W73G) amino acid substitution. Like the other patients studied, this patient showed skin hypopigmentation and silvery-gray sheen of the hair with large pigment aggregations in hair shafts. The first episode of hemophagocytosis occurred before 6 months of age.

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

Last Updated: Jun 7, 2022