NM_000551.4(VHL):c.607C>A (p.Gln203Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 27, 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:: RCV003170281.2

Allele description [Variation Report for NM_000551.4(VHL):c.607C>A (p.Gln203Lys)]

NM_000551.4(VHL):c.607C>A (p.Gln203Lys)

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.607C>A (p.Gln203Lys)

HGVS:

NC_000003.12:g.10149930C>A
NG_008212.3:g.13296C>A
NG_046756.1:g.7692C>A
NM_000551.3:c.607C>A
NM_000551.4:c.607C>AMANE SELECT
NM_001354723.2:c.*161C>A
NM_198156.3:c.484C>A
NP_000542.1:p.Gln203Lys
NP_937799.1:p.Gln162Lys
LRG_322t1:c.607C>A
LRG_322:g.13296C>A
NC_000003.11:g.10191614C>A
NM_000551.4:c.607C>A

Protein change:

Q162K

Links:

dbSNP: rs750711842

NCBI 1000 Genomes Browser:

rs750711842

Molecular consequence:

NM_001354723.2:c.*161C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000551.4:c.607C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.484C>A - 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
SCV003858785	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003858785

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 27, 2022)

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, SCV003858785.2

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

Description

The p.Q203K variant (also known as c.607C>A), located in coding exon 3 of the VHL gene, results from a C to A substitution at nucleotide position 607. The glutamine at codon 203 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration 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: Sep 29, 2024

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