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NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 5, 2017)
Last evaluated:
Dec 2, 2016
Accession:
VCV000435465.1
Variation ID:
435465
Description:
2bp insertion
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NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter)

Allele ID
429038
Variant type
Insertion
Variant length
2 bp
Cytogenetic location
10q24.32
Genomic location
10: 102067185-102067186 (GRCh38) GRCh38 UCSC
10: 103826942-103826943 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_564:g.6796_6797insAG
NC_000010.10:g.103826942_103826943insAG
NC_000010.11:g.102067185_102067186insAG
... more HGVS
Protein change
C571*
Other names
-
Canonical SPDI
NC_000010.11:102067185::AG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA645372884
dbSNP: rs1220869113
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 2, 2016 RCV000500537.1
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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
109 124

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 02, 2016)
criteria provided, single submitter
Method: clinical testing
Hermansky-Pudlak syndrome 6
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000595187.1
Submitted: (Jul 05, 2017)
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 rs1220869113...

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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