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NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile) AND Griscelli syndrome type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2022
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:
RCV002251780.1

Allele description [Variation Report for NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile)]

NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile)

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.136T>A (p.Phe46Ile)
HGVS:
  • NC_000015.10:g.55234799A>T
  • NG_009103.1:g.60005T>A
  • NM_004580.5:c.136T>A
  • NM_183234.2:c.136T>A
  • NM_183235.3:c.136T>AMANE SELECT
  • NM_183236.3:c.136T>A
  • NP_004571.2:p.Phe46Ile
  • NP_899057.1:p.Phe46Ile
  • NP_899058.1:p.Phe46Ile
  • NP_899059.1:p.Phe46Ile
  • LRG_96:g.60005T>A
  • NC_000015.9:g.55526997A>T
  • NM_004580.4:c.136T>A
Protein change:
F46I; PHE46ILE
Links:
OMIM: 603868.0013; dbSNP: rs2140989874
NCBI 1000 Genomes Browser:
rs2140989874
Molecular consequence:
  • NM_004580.5:c.136T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183234.2:c.136T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183235.3:c.136T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183236.3:c.136T>A - 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
SCV002522434OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2022) 		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

Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum.

Mishra K, Singla S, Sharma S, Saxena R, Batra VV.

Korean J Pediatr. 2014 Feb;57(2):91-5. doi: 10.3345/kjp.2014.57.2.91. Epub 2014 Feb 24.

PubMed [citation]
PMID:
24678334
PMCID:
PMC3965801

Details of each submission

From OMIM, SCV002522434.1

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

Description

In 2 Indian brothers with Griscelli syndrome (GS2; 607624) and divergent clinical presentations, one neurologic and the other hematologic, Mishra et al. (2014) identified homozygosity for a c.136T-A transversion in the RAB27A gene, resulting in a phe46-to-ile (F46I) substitution. Their unaffected parents were heterozygous for the variant.

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

Last Updated: Dec 24, 2023