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NM_000551.4(VHL):c.265C>T (p.Leu89Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 8, 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:
RCV003166260.2

Allele description [Variation Report for NM_000551.4(VHL):c.265C>T (p.Leu89Phe)]

NM_000551.4(VHL):c.265C>T (p.Leu89Phe)

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.265C>T (p.Leu89Phe)
HGVS:
  • NC_000003.12:g.10142112C>T
  • NG_008212.3:g.5478C>T
  • NM_000551.4:c.265C>TMANE SELECT
  • NM_001354723.2:c.265C>T
  • NM_198156.3:c.265C>T
  • NP_000542.1:p.Leu89Phe
  • NP_000542.1:p.Leu89Phe
  • NP_001341652.1:p.Leu89Phe
  • NP_937799.1:p.Leu89Phe
  • LRG_322t1:c.265C>T
  • LRG_322:g.5478C>T
  • LRG_322p1:p.Leu89Phe
  • NC_000003.11:g.10183796C>T
  • NM_000551.3:c.265C>T
Protein change:
L89F
Links:
dbSNP: rs1575922124
NCBI 1000 Genomes Browser:
rs1575922124
Molecular consequence:
  • NM_000551.4:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354723.2:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003888430Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Jun 8, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.

Zhang J, Huang Y, Pan J, Liu D, Zhou L, Xue W, Chen Q, Dong B, Xuan H.

J Cancer Res Clin Oncol. 2008 Nov;134(11):1211-8. doi: 10.1007/s00432-008-0399-x. Epub 2008 Apr 30.

PubMed [citation]
PMID:
18446368

Details of each submission

From Ambry Genetics, SCV003888430.2

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

Description

The p.L89F variant (also known as c.265C>T), located in coding exon 1 of the VHL gene, results from a C to T substitution at nucleotide position 265. The leucine at codon 89 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Apr 20, 2024