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NM_003978.5(PSTPIP1):c.741+32_741+33dup

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Jun 7, 2010)
Accession:
VCV000097809.1
Variation ID:
97809
Description:
2bp duplication
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NM_003978.5(PSTPIP1):c.741+32_741+33dup

Allele ID
103701
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
15q24.3
Genomic location
15: 77031309-77031310 (GRCh38) GRCh38 UCSC
15: 77323650-77323651 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.77031310_77031311dup
NC_000015.9:g.77323651_77323652dup
NG_007526.1:g.41187_41188dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:77031309:GT:GTGT
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (GTGT)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00323
The Genome Aggregation Database (gnomAD), exomes 0.00376
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00436
Exome Aggregation Consortium (ExAC) 0.00347
The Genome Aggregation Database (gnomAD) 0.00249
1000 Genomes Project 0.00160
Links
ClinGen: CA150156
dbSNP: rs104895417
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000084062.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PSTPIP1 - - GRCh38
GRCh37
348 368

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: not provided
Pyogenic arthritis, pyoderma gangrenosum and acne
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000116185.1
Submitted: (Jun 07, 2010)
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 rs104895417...

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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