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NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 2, 2016)
Last evaluated:
Feb 26, 2016
Accession:
VCV000223203.1
Variation ID:
223203
Description:
2bp indel
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NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)

Allele ID
224934
Variant type
Indel
Variant length
2 bp
Cytogenetic location
3p25.3
Genomic location
3: 10146554-10146555 (GRCh38) GRCh38 UCSC
3: 10188238-10188239 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10188238_10188239delinsTT
NC_000003.12:g.10146554_10146555delinsTT
NG_008212.3:g.9920_9921delinsTT
... more HGVS
Protein change
L128F
Other names
-
Canonical SPDI
NC_000003.12:10146553:GC:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs869025645
ClinGen: CA357088
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 no assertion criteria provided Feb 26, 2016 RCV000208832.1
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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
Likely 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: SCV000264728.1
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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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 rs869025645...

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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 Oct 24, 2021