NM_000551.4(VHL):c.240T>A (p.Ser80Arg) AND Von Hippel-Lindau syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 24, 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:: RCV004440400.1

Allele description [Variation Report for NM_000551.4(VHL):c.240T>A (p.Ser80Arg)]

NM_000551.4(VHL):c.240T>A (p.Ser80Arg)

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.240T>A (p.Ser80Arg)

HGVS:

NC_000003.12:g.10142087T>A
NG_008212.3:g.5453T>A
NM_000551.4:c.240T>AMANE SELECT
NM_001354723.2:c.240T>A
NM_198156.3:c.240T>A
NP_000542.1:p.Ser80Arg
NP_000542.1:p.Ser80Arg
NP_001341652.1:p.Ser80Arg
NP_937799.1:p.Ser80Arg
LRG_322t1:c.240T>A
LRG_322:g.5453T>A
LRG_322p1:p.Ser80Arg
NC_000003.11:g.10183771T>A
NM_000551.3:c.240T>A
NR_176335.1:n.310T>A

Protein change:

S80R

Molecular consequence:

NM_000551.4:c.240T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354723.2:c.240T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.240T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_176335.1:n.310T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004933613	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Jan 24, 2024)	unknown	clinical testing	PubMed (7) [See all records that cite these PMIDs] 19755989, 12624160, 33720516, 12202531, 20978319, 8956040, 29748190 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004933613

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Likely pathogenic
(Jan 24, 2024)

unknown

clinical testing

PubMed (7)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma.

Patard JJ, Rioux-Leclercq N, Masson D, Zerrouki S, Jouan F, Collet N, Dubourg C, Lobel B, Denis M, Fergelot P.

Br J Cancer. 2009 Oct 20;101(8):1417-24. doi: 10.1038/sj.bjc.6605298. Epub 2009 Sep 15.

PubMed [citation]

PMID:: 19755989
PMCID:: PMC2768461

High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.

Rocha JC, Silva RL, Mendonça BB, Marui S, Simpson AJ, Camargo AA.

J Med Genet. 2003 Mar;40(3):e31. No abstract available.

PubMed [citation]

PMID:: 12624160
PMCID:: PMC1735383

See all PubMed Citations (7)

Details of each submission

From Myriad Genetics, Inc., SCV004933613.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

This variant is considered likely pathogenic. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 19755989, 12624160, 33720516, 12202531, 20978319, 8956040, 29748190]. This variant is expected to disrupt protein structure [Myriad internal data].

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

Last Updated: May 7, 2024

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