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NM_000551.4(VHL):c.149C>T (p.Ala50Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 12, 2016
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:
RCV000481405.1

Allele description [Variation Report for NM_000551.4(VHL):c.149C>T (p.Ala50Val)]

NM_000551.4(VHL):c.149C>T (p.Ala50Val)

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.149C>T (p.Ala50Val)
HGVS:
  • NC_000003.12:g.10141996C>T
  • NG_008212.3:g.5362C>T
  • NM_000551.4:c.149C>TMANE SELECT
  • NM_001354723.2:c.149C>T
  • NM_198156.3:c.149C>T
  • NP_000542.1:p.Ala50Val
  • NP_000542.1:p.Ala50Val
  • NP_001341652.1:p.Ala50Val
  • NP_937799.1:p.Ala50Val
  • LRG_322t1:c.149C>T
  • LRG_322:g.5362C>T
  • LRG_322p1:p.Ala50Val
  • NC_000003.11:g.10183680C>T
  • NM_000551.3:c.149C>T
Protein change:
A50V
Links:
dbSNP: rs766576246
NCBI 1000 Genomes Browser:
rs766576246
Molecular consequence:
  • NM_000551.4:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354723.2:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570302GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 12, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000570302.4

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

Description

This variant is denoted VHL c.149C>T at the cDNA level, p.Ala50Val (A50V) at the protein level, and results in the change of an Alanine to a Valine (GCC>GTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. VHL Ala50Val was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Alanine and Valine share similar properties, this is considered a conservative amino acid substitution. VHL Ala50Val occurs at a position that is not conserved and is not located in a known functional domain (Yuen 2009). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether VHL Ala50Val is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024