NM_000551.4(VHL):c.490C>T (p.Gln164Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 15, 2015
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:: RCV000485182.1

Allele description [Variation Report for NM_000551.4(VHL):c.490C>T (p.Gln164Ter)]

NM_000551.4(VHL):c.490C>T (p.Gln164Ter)

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.490C>T (p.Gln164Ter)

HGVS:

NC_000003.12:g.10149813C>T
NG_008212.3:g.13179C>T
NG_046756.1:g.7575C>T
NM_000551.4:c.490C>TMANE SELECT
NM_001354723.2:c.*44C>T
NM_198156.3:c.367C>T
NP_000542.1:p.Gln164Ter
NP_000542.1:p.Gln164Ter
NP_937799.1:p.Gln123Ter
LRG_322t1:c.490C>T
LRG_322:g.13179C>T
LRG_322p1:p.Gln164Ter
NC_000003.11:g.10191497C>T
NM_000551.3:c.490C>T
p.[Gln164*]

Protein change:

Q123*

Links:

dbSNP: rs5030819

NCBI 1000 Genomes Browser:

rs5030819

Molecular consequence:

NM_001354723.2:c.*44C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000551.4:c.490C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198156.3:c.367C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000567988	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 15, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567988

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 15, 2015)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000567988.3

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

Description

The Q164X variant has been published previously in association with von Hippel-Lindau (VHL) syndrome and pheochromocytoma (Hes et al., 2007; Galvac et al., 1996; Neumann et al., 2002). It is predicted to cause loss of normal protein function through protein truncation as the last 50 amino acid residues are lost. In addition, Q146X was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Given the available evidence, we interpret Q164X as a pathogenic variant.

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

Last Updated: Sep 29, 2024

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