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NM_001354723.2(VHL):c.*171_*172delinsAG

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2017)
Last evaluated:
Aug 2, 2016
Accession:
VCV000411989.1
Variation ID:
411989
Description:
2bp indel
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NM_001354723.2(VHL):c.*171_*172delinsAG

Allele ID
393194
Variant type
Indel
Variant length
2 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149940-10149941 (GRCh38) GRCh38 UCSC
3: 10191624-10191625 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10191624_10191625delinsAG
NC_000003.12:g.10149940_10149941delinsAG
NM_198156.3:c.494_495delinsAG NP_937799.1:p.Ile165Lys missense
... more HGVS
Protein change
I165K
Other names
-
Canonical SPDI
NC_000003.12:10149939:TT:AG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16611072
dbSNP: rs1060503567
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 2, 2016 RCV000461877.1
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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
Uncertain significance
(Aug 02, 2016)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV000553418.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces isoleucine with lysine at codon 206 of the VHL protein (p.Ile206Lys). The isoleucine residue is weakly 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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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 rs1060503567...

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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