NM_000551.4(VHL):c.524A>G (p.Tyr175Cys) AND Von Hippel-Lindau syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
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:: RCV000030589.2

Allele description [Variation Report for NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)]

NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)

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.524A>G (p.Tyr175Cys)

HGVS:

NC_000003.12:g.10149847A>G
NG_008212.3:g.13213A>G
NG_046756.1:g.7609A>G
NM_000551.4:c.524A>GMANE SELECT
NM_001354723.2:c.*78A>G
NM_198156.3:c.401A>G
NP_000542.1:p.Tyr175Cys
NP_000542.1:p.Tyr175Cys
NP_937799.1:p.Tyr134Cys
LRG_322t1:c.524A>G
LRG_322:g.13213A>G
LRG_322p1:p.Tyr175Cys
NC_000003.11:g.10191531A>G
NM_000551.3:c.524A>G

Protein change:

Y134C

Links:

dbSNP: rs193922613

NCBI 1000 Genomes Browser:

rs193922613

Molecular consequence:

NM_001354723.2:c.*78A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000551.4:c.524A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.401A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Von Hippel-Lindau syndrome (VHLS)
Synonyms:: VHL syndrome; Von Hippel-Lindau
Identifiers:: MONDO: MONDO:0008667; MedGen: C0019562; Orphanet: 892; OMIM: 193300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053266	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	likely pathogenic (Aug 18, 2011)	germline	curation, clinical testing	PubMed (4) [See all records that cite these PMIDs] 15642680, 17640059, 16210343, 14722919 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000053266

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

likely pathogenic
(Aug 18, 2011)

germline

curation, clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	2	not provided	curation
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

Bento MC, Chang KT, Guan Y, Liu E, Caldas G, Gatti RA, Prchal JT.

Haematologica. 2005 Jan;90(1):128-9.

PubMed [citation]

PMID:: 15642680

Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemia.

Wiesener MS, Münchenhagen P, Gläser M, Sobottka BA, Knaup KX, Jozefowski K, Jürgensen JS, Roigas J, Warnecke C, Gröne HJ, Maxwell PH, Willam C, Eckardt KU.

Int J Cancer. 2007 Dec 1;121(11):2434-42.

PubMed [citation]

PMID:: 17640059

See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053266.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	curation	PubMed (4)
2	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

"Proband with VHL; authors state variant co-segregates with disease in this family (data not shown); assumed at least 1 other concordant family member; not found in controls (see pbGP)": PubMed [ID: 14722919]

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	2	not provided	not provided		2	not provided	not provided	not provided
2	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 2

Co-occurrences

#	Zygosity	Alleles	Number of Observations
2	SingleHeterozygote	RET:c.1296A>G, RET:c.2307G>T, RET:c.135A>G, SDHB:c.18C>A	1

Last Updated: Sep 29, 2024

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