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NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 8, 2020
Accession:
VCV000223233.4
Variation ID:
223233
Description:
single nucleotide variant
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NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)

Allele ID
224963
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149878 (GRCh38) GRCh38 UCSC
3: 10191562 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.10149878C>G
NG_008212.3:g.13244C>G
NG_046756.1:g.7640C>G
... more HGVS
Protein change
Y185*, Y144*
Other names
-
Canonical SPDI
NC_000003.12:10149877:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA357075
dbSNP: rs864622109
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 Sep 22, 2019 RCV000219064.1
Likely pathogenic 1 criteria provided, single submitter Feb 8, 2020 RCV001377065.1
Pathogenic 1 no assertion criteria provided Feb 26, 2016 RCV000208826.1
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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
550 1356
LOC107303340 - - - GRCh38 - 775

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 22, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000274604.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.Y185* pathogenic mutation (also known as c.555C>G), located in coding exon 3 of the VHL gene, results from a C to G substitution at … (more)
Likely pathogenic
(Feb 08, 2020)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV001574297.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change results in a premature translational stop signal in the VHL gene (p.Tyr185*). While this is not anticipated to result in nonsense mediated … (more)
Pathogenic
(Feb 26, 2016)
no assertion criteria provided
Method: clinical testing
Von Hippel-Lindau syndrome
Allele origin: germline
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000264771.1
Submitted: (Mar 02, 2016)
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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Title Author Journal Year Link
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. Lorenzo FR British journal of haematology 2013 PMID: 23772956
Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. Losonczy G BMC medical genetics 2013 PMID: 23298237
VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. Knauth K The Journal of biological chemistry 2009 PMID: 19228690
Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. Ritter MM The Journal of clinical endocrinology and metabolism 1996 PMID: 8772572
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. Neumann HP JAMA 1995 PMID: 7563486
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Crossey PA Human molecular genetics 1994 PMID: 7987306

Text-mined citations for rs864622109...

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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 Dec 04, 2021