NM_000551.4(VHL):c.578A>G (p.Asn193Ser) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Dec 27, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001024530.1

Allele description [Variation Report for NM_000551.4(VHL):c.578A>G (p.Asn193Ser)]

NM_000551.4(VHL):c.578A>G (p.Asn193Ser)

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.578A>G (p.Asn193Ser)
HGVS:
  • NC_000003.12:g.10149901A>G
  • NG_008212.3:g.13267A>G
  • NG_046756.1:g.7663A>G
  • NM_000551.3:c.578A>G
  • NM_000551.4:c.578A>GMANE SELECT
  • NM_001354723.2:c.*132A>G
  • NM_198156.3:c.455A>G
  • NP_000542.1:p.Asn193Ser
  • NP_000542.1:p.Asn193Ser
  • NP_937799.1:p.Asn152Ser
  • LRG_322t1:c.578A>G
  • LRG_322:g.13267A>G
  • LRG_322p1:p.Asn193Ser
  • NC_000003.11:g.10191585A>G
  • NC_000003.11:g.10191585A>G
Protein change:
N152S
Links:
dbSNP: rs879254225
NCBI 1000 Genomes Browser:
rs879254225
Molecular consequence:
  • NM_001354723.2:c.*132A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.3:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000551.4:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.455A>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
SCV001186561Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Dec 27, 2019)
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, SCV001186561.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.N193S variant (also known as c.578A>G), located in coding exon 3 of the VHL gene, results from an A to G substitution at nucleotide position 578. The asparagine at codon 193 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not 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: Oct 25, 2021

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