NM_000551.4(VHL):c.205C>G (p.Arg69Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 6, 2024
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:: RCV002422523.3

Allele description [Variation Report for NM_000551.4(VHL):c.205C>G (p.Arg69Gly)]

NM_000551.4(VHL):c.205C>G (p.Arg69Gly)

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.205C>G (p.Arg69Gly)

HGVS:

NC_000003.12:g.10142052C>G
NG_008212.3:g.5418C>G
NM_000551.4:c.205C>GMANE SELECT
NM_001354723.2:c.205C>G
NM_198156.3:c.205C>G
NP_000542.1:p.Arg69Gly
NP_000542.1:p.Arg69Gly
NP_001341652.1:p.Arg69Gly
NP_937799.1:p.Arg69Gly
LRG_322t1:c.205C>G
LRG_322:g.5418C>G
LRG_322p1:p.Arg69Gly
NC_000003.11:g.10183736C>G
NM_000551.3:c.205C>G

Protein change:

R69G

Links:

dbSNP: rs1428175816

NCBI 1000 Genomes Browser:

rs1428175816

Molecular consequence:

NM_000551.4:c.205C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354723.2:c.205C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.205C>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002725586	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 6, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002725586

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 6, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002725586.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R69G variant (also known as c.205C>G), located in coding exon 1 of the VHL gene, results from a C to G substitution at nucleotide position 205. The arginine at codon 69 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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