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NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000261765.5
Variation ID:
261765
Description:
single nucleotide variant
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NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)

Allele ID
253663
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q24.32
Genomic location
10: 102066106 (GRCh38) GRCh38 UCSC
10: 103825863 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_564:g.5717G>C
LRG_564t1:c.632G>C LRG_564p1:p.Gly211Ala
NC_000010.10:g.103825863G>C
... more HGVS
Protein change
G211A
Other names
-
Canonical SPDI
NC_000010.11:102066105:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00439 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00267
The Genome Aggregation Database (gnomAD), exomes 0.00519
The Genome Aggregation Database (gnomAD) 0.00124
Exome Aggregation Consortium (ExAC) 0.00415
1000 Genomes Project 0.00439
Links
ClinGen: CA5659819
dbSNP: rs200584437
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter - RCV000250282.1
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000368931.2
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000950751.3
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000314397.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Hermansky-Pudlak syndrome 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000360064.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001097084.3
Submitted: (Jan 07, 2021)
Evidence details

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 rs200584437...

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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 24, 2021