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NM_000551.4(VHL):c.241C>G (p.Pro81Ala)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 19, 2020
Accession:
VCV001068142.1
Variation ID:
1068142
Description:
single nucleotide variant
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NM_000551.4(VHL):c.241C>G (p.Pro81Ala)

Allele ID
1055278
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10142088 (GRCh38) GRCh38 UCSC
3: 10183772 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10183772C>G
NC_000003.12:g.10142088C>G
NM_000551.4:c.241C>G MANE Select NP_000542.1:p.Pro81Ala missense
... more HGVS
Protein change
P81A
Other names
-
Canonical SPDI
NC_000003.12:10142087:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 19, 2020 RCV001379600.1
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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
547 1340

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 19, 2020)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV001577427.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces proline with alanine at codon 81 of the VHL protein (p.Pro81Ala). The proline residue is highly conserved and there is a … (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
Presented Abstracts from the Thirty Fifth Annual Education Conference of the National Society of Genetic Counselors (Seattle, WA, September 2016). - Journal of genetic counseling 2016 PMID: 27730413
Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea. Kim JH Clinical genetics 2014 PMID: 24134185
Genetic basis of congenital erythrocytosis: mutation update and online databases. Bento C Human mutation 2014 PMID: 24115288
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. Piccini V Endocrine-related cancer 2012 PMID: 22241717
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation. Formenti F FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011 PMID: 21389259
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. Castellano M Annals of the New York Academy of Sciences 2006 PMID: 17102082

Record last updated May 13, 2021