NM_000551.4(VHL):c.329del (p.His110fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 17, 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:: RCV002531399.4

Allele description [Variation Report for NM_000551.4(VHL):c.329del (p.His110fs)]

NM_000551.4(VHL):c.329del (p.His110fs)

Gene:

VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_000551.4(VHL):c.329del (p.His110fs)

HGVS:

NC_000003.12:g.10142176del
NG_008212.3:g.5542del
NM_000551.4:c.329delMANE SELECT
NM_001354723.2:c.329del
NM_198156.3:c.329del
NP_000542.1:p.His110fs
NP_001341652.1:p.His110fs
NP_937799.1:p.His110fs
LRG_322:g.5542del
NC_000003.11:g.10183860del
NM_000551.3:c.329delA

Protein change:

H110fs

Links:

dbSNP: rs1559426199

NCBI 1000 Genomes Browser:

rs1559426199

Molecular consequence:

NM_000551.4:c.329del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354723.2:c.329del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198156.3:c.329del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Chuvash polycythemia
Synonyms:: POLYCYTHEMIA, VHL-DEPENDENT; Erythrocytosis, familial, 2
Identifiers:: MONDO: MONDO:0009892; MedGen: C1837915; Orphanet: 238557; OMIM: 263400

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

Recent activity

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Bagre pinnimaculatus voucher STRI-5736 ATPase subunit 8 and ATPase subunit 6 genes, complete cds; mitochondrial
gi|133843531|gb|DQ990677.1|

Nucleotide
Homo sapiens NLR family pyrin domain containing 7 (NLRP7), RefSeqGene on chromos...
Homo sapiens NLR family pyrin domain containing 7 (NLRP7), RefSeqGene on chromosome 19
gi|2309319924|ref|NG_008056.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003525037	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 17, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 28388566, 8956040, 12202531, 29891534, 31350093, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003525037

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 17, 2022)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

Citations

PubMed

Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.

Peng S, Shepard MJ, Wang J, Li T, Ning X, Cai L, Zhuang Z, Gong K.

Oncotarget. 2017 Jun 13;8(24):38456-38465. doi: 10.18632/oncotarget.16594.

PubMed [citation]

PMID:: 28388566
PMCID:: PMC5503545

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, Crossey PA, Webster AR, Affara NA, Ferguson-Smith MA, Brauch H, Glavac D, Neumann HP, Tisherman S, Mulvihill JJ, Gross DJ, Shuin T, Whaley J, Seizinger B, Kley N, Olschwang S, Boisson C, et al.

Hum Mutat. 1996;8(4):348-57.

PubMed [citation]

PMID:: 8956040

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003525037.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with von Hippel‚ÄìLindau syndrome (PMID: 28388566). ClinVar contains an entry for this variant (Variation ID: 560741). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.His110Profs*49) in the VHL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531, 29891534, 31350093).

#	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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