U.S. flag

An official website of the United States government

NM_000551.4(VHL):c.219_220del (p.Gln73fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2014
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:
RCV000161098.1

Allele description [Variation Report for NM_000551.4(VHL):c.219_220del (p.Gln73fs)]

NM_000551.4(VHL):c.219_220del (p.Gln73fs)

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.219_220del (p.Gln73fs)
HGVS:
  • NC_000003.12:g.10142066_10142067del
  • NG_008212.3:g.5432_5433del
  • NM_000551.4:c.219_220delMANE SELECT
  • NM_001354723.2:c.219_220del
  • NM_198156.3:c.219_220del
  • NP_000542.1:p.Gln73fs
  • NP_001341652.1:p.Gln73fs
  • NP_937799.1:p.Gln73fs
  • LRG_322:g.5432_5433del
  • NC_000003.11:g.10183750_10183751del
  • NM_000551.3:c.219_220delGG
  • p.Q73HfsX58
Protein change:
Q73fs
Links:
dbSNP: rs730882039
NCBI 1000 Genomes Browser:
rs730882039
Molecular consequence:
  • NM_000551.4:c.219_220del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354723.2:c.219_220del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198156.3:c.219_220del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211833GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 12, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000211833.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.219_220delGG mutation in the VHL gene causes a frameshift starting with codon Glutamine 73, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 58 of the new reading frame, denoted p.Gln73HisfsX58. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, its presence is consistent with the diagnosis of von Hippel Lindau (VHL). The variant is found in VHL panel(s).

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

Last Updated: Dec 24, 2023