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NC_000003.11:g.10094065-?_10191654+?del AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 22, 2016
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:
RCV001380375.1

Allele description

NC_000003.11:g.10094065-?_10191654+?del

Genes:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p25.3
Genomic location:
Chr3: 10094065 (on Assembly GRCh37)
Preferred name:
NC_000003.11:g.10094065-?_10191654+?del
HGVS:
NC_000003.11:g.10094065-?_10191654+?del

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001578411Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 22, 2016) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genotype-phenotype correlations in VHL exon deletions.

McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F, Maher ER.

Am J Med Genet A. 2009 Oct;149A(10):2147-51. doi: 10.1002/ajmg.a.33023.

PubMed [citation]
PMID:
19764026

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.

Hes F, Zewald R, Peeters T, Sijmons R, Links T, Verheij J, Matthijs G, Leguis E, Mortier G, van der Torren K, Rosman M, Lips C, Pearson P, van der Luijt R.

Hum Genet. 2000 Apr;106(4):425-31.

PubMed [citation]
PMID:
10830910
See all PubMed Citations (8)

Details of each submission

From Invitae, SCV001578411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the VHL gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Partial and entire coding sequence deletions in the VHL gene have been reported in multiple individuals and families with von Hippel-Lindau disease (PMID: 19764026, 10830910, 19280651, 10567493, 8634692, 17537157, 20567917). For these reasons, this variant has been classified as Pathogenic. 1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023