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NM_000551.4(VHL):c.302T>G (p.Leu101Arg) AND Von Hippel-Lindau syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 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:
RCV003455513.2

Allele description [Variation Report for NM_000551.4(VHL):c.302T>G (p.Leu101Arg)]

NM_000551.4(VHL):c.302T>G (p.Leu101Arg)

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.302T>G (p.Leu101Arg)
HGVS:
  • NC_000003.12:g.10142149T>G
  • NG_008212.3:g.5515T>G
  • NM_000551.4:c.302T>GMANE SELECT
  • NM_001354723.2:c.302T>G
  • NM_198156.3:c.302T>G
  • NP_000542.1:p.Leu101Arg
  • NP_000542.1:p.Leu101Arg
  • NP_001341652.1:p.Leu101Arg
  • NP_937799.1:p.Leu101Arg
  • LRG_322t1:c.302T>G
  • LRG_322:g.5515T>G
  • LRG_322p1:p.Leu101Arg
  • NC_000003.11:g.10183833T>G
  • NM_000551.3:c.302T>G
  • NR_176335.1:n.372T>G
Protein change:
L101R
Molecular consequence:
  • NM_000551.4:c.302T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354723.2:c.302T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.302T>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004185965Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Oct 19, 2023) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Genetic characterization and protein stability analysis of a Chinese family with Von Hippel-Lindau disease.

Gao Y, Huang YP, Tu XA, Luo DS, Wang DH, Qiu SP, Xiang P, Li WQ, Jan R, Zhang YY, Sun XZ, Deng CH.

Chin Med J (Engl). 2013;126(19):3690-3.

PubMed [citation]
PMID:
24112165

Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

Hwang S, Ku CR, Lee JI, Hur KY, Lee MS, Lee CH, Koo KY, Lee JS, Rhee Y.

J Hum Genet. 2014 Sep;59(9):488-93. doi: 10.1038/jhg.2014.61. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25078357
See all PubMed Citations (3)

Details of each submission

From Myriad Genetics, Inc., SCV004185965.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is considered likely pathogenic. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 24112165, 25078357, 12624160]. This variant is expected to disrupt protein structure [Myriad internal data].

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

Last Updated: Sep 29, 2024