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NM_000551.4(VHL):c.340+770T>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 22, 2020
Accession:
VCV000816685.3
Variation ID:
816685
Description:
single nucleotide variant
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NM_000551.4(VHL):c.340+770T>C

Allele ID
804891
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10142957 (GRCh38) GRCh38 UCSC
3: 10184641 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10184641T>C
NC_000003.12:g.10142957T>C
NM_000551.4:c.340+770T>C MANE Select
... more HGVS
Protein change
S179P
Other names
-
Canonical SPDI
NC_000003.12:10142956:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs1346312258
OMIM: 608537.0030
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 Oct 22, 2020 RCV001238805.2
Pathogenic 1 no assertion criteria provided Jan 1, 2005 RCV001007626.1
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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
LOC107303340 - - - GRCh38 - 768

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 22, 2020)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV001411634.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change falls in intron 1 of the VHL gene. It is not expected to change the encoded amino acid sequence of the VHL … (more)
Pathogenic
(Jan 01, 2005)
no assertion criteria provided
Method: literature only
ERYTHROCYTOSIS, FAMILIAL, 2
Allele origin: germline
OMIM
Accession: SCV001167314.1
Submitted: (Mar 05, 2020)
Evidence details
Publications
PubMed (2)

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
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. Lenglet M Blood 2018 PMID: 29891534
Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. Cario H Haematologica 2005 PMID: 15642664

Text-mined citations for rs1346312258...

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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 May 10, 2021