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NM_000551.4(VHL):c.200A>G (p.Asn67Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 2022
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:
RCV003187667.2

Allele description [Variation Report for NM_000551.4(VHL):c.200A>G (p.Asn67Ser)]

NM_000551.4(VHL):c.200A>G (p.Asn67Ser)

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.200A>G (p.Asn67Ser)
HGVS:
  • NC_000003.12:g.10142047A>G
  • NG_008212.3:g.5413A>G
  • NM_000551.4:c.200A>GMANE SELECT
  • NM_001354723.2:c.200A>G
  • NM_198156.3:c.200A>G
  • NP_000542.1:p.Asn67Ser
  • NP_000542.1:p.Asn67Ser
  • NP_001341652.1:p.Asn67Ser
  • NP_937799.1:p.Asn67Ser
  • LRG_322t1:c.200A>G
  • LRG_322:g.5413A>G
  • LRG_322p1:p.Asn67Ser
  • NC_000003.11:g.10183731A>G
  • NM_000551.3:c.200A>G
  • NR_176335.1:n.270A>G
Protein change:
N67S
Molecular consequence:
  • NM_000551.4:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354723.2:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176335.1:n.270A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003858780Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 2022) 		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

Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.

Minervini G, Quaglia F, Tabaro F, Tosatto SCE.

PLoS Comput Biol. 2019 Apr;15(4):e1006478. doi: 10.1371/journal.pcbi.1006478.

PubMed [citation]
PMID:
30943211
PMCID:
PMC6464237

Details of each submission

From Ambry Genetics, SCV003858780.2

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

Description

The p.N67S variant (also known as c.200A>G), located in coding exon 1 of the VHL gene, results from an A to G substitution at nucleotide position 200. The asparagine at codon 67 is replaced by serine, an amino acid with highly similar properties. This variant has been reported in an individual with Von-Hippel Lindau syndrome (Minervini G et al. PLoS Comput Biol. 2019 Apr;15:e1006478). This amino acid position is highly 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: Sep 29, 2024