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NM_000551.4(VHL):c.605C>T (p.Thr202Ile) AND Von Hippel-Lindau syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003153642.1

Allele description [Variation Report for NM_000551.4(VHL):c.605C>T (p.Thr202Ile)]

NM_000551.4(VHL):c.605C>T (p.Thr202Ile)

Genes:
LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.605C>T (p.Thr202Ile)
Other names:
p.Thr202Ile
HGVS:
  • NC_000003.12:g.10149928C>T
  • NG_008212.3:g.13294C>T
  • NG_046756.1:g.7690C>T
  • NM_000551.4:c.605C>TMANE SELECT
  • NM_001354723.2:c.*159C>T
  • NM_198156.3:c.482C>T
  • NP_000542.1:p.Thr202Ile
  • NP_000542.1:p.Thr202Ile
  • NP_937799.1:p.Thr161Ile
  • LRG_322t1:c.605C>T
  • LRG_322:g.13294C>T
  • LRG_322p1:p.Thr202Ile
  • NC_000003.11:g.10191612C>T
  • NM_000551.3:c.605C>T
Protein change:
T161I
Links:
dbSNP: rs779514074
NCBI 1000 Genomes Browser:
rs779514074
Molecular consequence:
  • NM_001354723.2:c.*159C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.605C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.482C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Von Hippel-Lindau syndrome (VHLS)
Synonyms:
VHL syndrome; Von Hippel-Lindau
Identifiers:
MONDO: MONDO:0008667; MedGen: C0019562; Orphanet: 892; OMIM: 193300

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003843005St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Jan 19, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV003843005.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The VHL c.605C>T (p.Thr202Ile) missense change has a maximum subpopulation frequency of 0.0062% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. A VHL-specific in silico multiparametric scoring algorithm indicated that this variant is more likely to be associated with disease (PMID: 33151962). To our knowledge, this variant has not been reported in individuals with Von Hippel-Lindau disease. In summary, the evidence currently available is insufficient to determine the role of this variant in disease. It has therefore been classified as of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024