NM_000551.4(VHL):c.439A>G (p.Ile147Val) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: May 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000562695.2

Allele description [Variation Report for NM_000551.4(VHL):c.439A>G (p.Ile147Val)]

NM_000551.4(VHL):c.439A>G (p.Ile147Val)

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.439A>G (p.Ile147Val)
HGVS:
  • NC_000003.12:g.10146612A>G
  • NG_008212.3:g.9978A>G
  • NG_046756.1:g.4374A>G
  • NM_000551.3:c.439A>G
  • NM_000551.4:c.439A>GMANE SELECT
  • NM_001354723.2:c.*18-3175A>G
  • NM_198156.3:c.341-3175A>G
  • NP_000542.1:p.Ile147Val
  • NP_000542.1:p.Ile147Val
  • LRG_322t1:c.439A>G
  • LRG_322:g.9978A>G
  • LRG_322p1:p.Ile147Val
  • NC_000003.11:g.10188296A>G
  • NM_000551.2:c.439A>G
Protein change:
I147V
Links:
dbSNP: rs1057517560
NCBI 1000 Genomes Browser:
rs1057517560
Molecular consequence:
  • NM_001354723.2:c.*18-3175A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3175A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000551.3:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000551.4:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000675798Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 20, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000675798.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.I147V variant (also known as c.439A>G), located in coding exon 2 of the VHL gene, results from an A to G substitution at nucleotide position 439. The isoleucine at codon 147 is replaced by valine, an amino acid with highly similar properties. This variant has been previously reported in a 34-year-old woman with bilateral renal cancer (Petersson F et al. Ann Diagn Pathol. 2011 Oct;15(5):362-9). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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