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NM_000551.4(VHL):c.353T>G (p.Leu118Arg) AND Von Hippel-Lindau syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 21, 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:
RCV003233031.2

Allele description [Variation Report for NM_000551.4(VHL):c.353T>G (p.Leu118Arg)]

NM_000551.4(VHL):c.353T>G (p.Leu118Arg)

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.353T>G (p.Leu118Arg)
HGVS:
  • NC_000003.12:g.10146526T>G
  • NG_008212.3:g.9892T>G
  • NG_046756.1:g.4288T>G
  • NM_000551.4:c.353T>GMANE SELECT
  • NM_001354723.2:c.*18-3261T>G
  • NM_198156.3:c.341-3261T>G
  • NP_000542.1:p.Leu118Arg
  • NP_000542.1:p.Leu118Arg
  • LRG_322t1:c.353T>G
  • LRG_322:g.9892T>G
  • LRG_322p1:p.Leu118Arg
  • NC_000003.11:g.10188210T>G
  • NM_000551.3:c.353T>G
Protein change:
L118R
Links:
dbSNP: rs5030830
NCBI 1000 Genomes Browser:
rs5030830
Molecular consequence:
  • NM_001354723.2:c.*18-3261T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3261T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000551.4:c.353T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003930411Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 21, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), SCV003930411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 1, 2024