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NM_001354723.2(VHL):c.*84_*90del

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 14, 2019)
Last evaluated:
Aug 16, 2017
Accession:
VCV000694389.1
Variation ID:
694389
Description:
7bp deletion
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NM_001354723.2(VHL):c.*84_*90del

Allele ID
682317
Variant type
Deletion
Variant length
7 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149850-10149856 (GRCh38) GRCh38 UCSC
3: 10191534-10191540 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10191537_10191543del
NC_000003.12:g.10149853_10149859del
NG_008212.3:g.13219_13225del
... more HGVS
Protein change
R136fs, R177fs
Other names
-
Canonical SPDI
NC_000003.12:10149849:GGAGACTGGA:GGA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1575932266
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Skin adenoma
Pathogenic 1 no assertion criteria provided Aug 16, 2017 RCV000855722.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VHL Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
551 1350
LOC107303340 - - - GRCh38 - 774

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 16, 2017)
no assertion criteria provided
Method: clinical testing
Von Hippel-Lindau syndrome
Renal cell carcinoma
Cerebellar hemangioblastoma
Skin adenoma
(Autosomal dominant inheritance)
Allele origin: inherited
Cancer medicine,Gaomi People's Hospital
Accession: SCV000963100.1
Submitted: (Nov 14, 2019)
Evidence details
Comment:
This variation (c.530_536delGACTGGA in VHL) is pathogenic, leading to hemangioblastoma in cerebellar tumors, metastasis of renal carcinoma and bilateral multiple nephridial cysts. This mutation may … (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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Title Author Journal Year Link
Novel gene mutation in von Hippel-Lindau disease - a report of two cases. Wang J BMC medical genetics 2019 PMID: 31823746

Text-mined citations for rs1575932266...

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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