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NM_024747.5(HPS6):c.1606A>G (p.Arg536Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000298559.2
Variation ID:
298559
Description:
single nucleotide variant
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NM_024747.5(HPS6):c.1606A>G (p.Arg536Gly)

Allele ID
320402
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q24.32
Genomic location
10: 102067080 (GRCh38) GRCh38 UCSC
10: 103826837 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_564t1:c.1606A>G LRG_564p1:p.Arg536Gly
LRG_564:g.6691A>G
NC_000010.10:g.103826837A>G
... more HGVS
Protein change
R536G
Other names
-
Canonical SPDI
NC_000010.11:102067079:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
ClinGen: CA5660005
dbSNP: rs757589760
VarSome
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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 Jan 13, 2018 RCV000323646.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HPS6 - - GRCh38
GRCh37
110 125

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hermansky-Pudlak syndrome 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000360069.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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

Text-mined citations for rs757589760...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021