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NM_000551.4(VHL):c.578A>G (p.Asn193Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 17, 2020
Accession:
VCV000246368.6
Variation ID:
246368
Description:
single nucleotide variant
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NM_000551.4(VHL):c.578A>G (p.Asn193Ser)

Allele ID
244407
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149901 (GRCh38) GRCh38 UCSC
3: 10191585 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10191585A>G
NM_000551.3:c.578A>G NP_000542.1:p.Asn193Ser missense
NC_000003.11:g.10191585A>G
... more HGVS
Protein change
N193S, N152S
Other names
-
Canonical SPDI
NC_000003.12:10149900:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA10584231
dbSNP: rs879254225
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 Feb 1, 2016 RCV000236061.1
Uncertain significance 1 criteria provided, single submitter Sep 17, 2020 RCV000537589.3
Uncertain significance 1 criteria provided, single submitter Dec 27, 2019 RCV001024530.1
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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
Uncertain significance
(Feb 01, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000293889.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted VHL c.578A>G at the cDNA level, p.Asn193Ser (N193S) at the protein level, and results in the change of an Asparagine to … (more)
Uncertain significance
(Sep 17, 2020)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV000626911.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces asparagine with serine at codon 193 of the VHL protein (p.Asn193Ser). The asparagine residue is moderately conserved and there is a … (more)
Uncertain significance
(Dec 27, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001186561.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.N193S variant (also known as c.578A>G), located in coding exon 3 of the VHL gene, results from an A to G substitution at nucleotide … (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 rs879254225...

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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