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NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 6, 2018
Accession:
VCV000536463.2
Variation ID:
536463
Description:
single nucleotide variant
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NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys)

Allele ID
529049
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.3
Genomic location
15: 55234918 (GRCh38) GRCh38 UCSC
15: 55527116 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.55234918T>C
NC_000015.9:g.55527116T>C
NM_004580.5:c.17A>G NP_004571.2:p.Tyr6Cys missense
... more HGVS
Protein change
Y6C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Exome Aggregation Consortium (ExAC) 0.00017
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00015
Links
ClinGen: CA7573714
dbSNP: rs145253993
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 6, 2018 RCV000644920.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RAB27A - - GRCh38
GRCh37
98 116

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 06, 2018)
criteria provided, single submitter
Method: clinical testing
Griscelli syndrome type 2
Allele origin: germline
Invitae
Accession: SCV000766642.2
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces tyrosine with cysteine at codon 6 of the RAB27A protein (p.Tyr6Cys). The tyrosine residue is highly conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019