Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

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

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 21, 2020
Accession:
VCV000848432.2
Variation ID:
848432
Description:
single nucleotide variant
Help

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

Allele ID
851241
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>A
NC_000003.12:g.10142957T>A
NM_000551.4:c.340+770T>A MANE Select
... more HGVS
Protein change
S179T
Other names
-
Canonical SPDI
NC_000003.12:10142956:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 21, 2020 RCV001052187.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 21, 2020)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV001216385.2
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)

Functional evidence

Help
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

Help
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

Record last updated May 10, 2021