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NM_000551.4(VHL):c.640T>A (p.Ter214Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
May 28, 2019
Accession:
VCV000801933.3
Variation ID:
801933
Description:
single nucleotide variant
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NM_000551.4(VHL):c.640T>A (p.Ter214Arg)

Allele ID
790313
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149963 (GRCh38) GRCh38 UCSC
3: 10191647 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.10149963T>A
NC_000003.11:g.10191647T>A
NM_000551.4:c.640T>A MANE Select NP_000542.1:p.Ter214Arg stop lost
... more HGVS
Protein change
-
Other names
*214R
*173R
Canonical SPDI
NC_000003.12:10149962:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1575932781
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 May 28, 2019 RCV000987111.1
Uncertain significance 1 criteria provided, single submitter Apr 4, 2019 RCV001025239.1
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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
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Allele origin: unknown
Mendelics
Accession: SCV001136315.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(Apr 04, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001187392.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.640T>A variant (also known as p.*214REXT*14), located in coding exon 3 of the VHL gene, results from a T to A 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 rs1575932781...

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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