U.S. flag

An official website of the United States government

NM_000551.4(VHL):c.214_216del (p.Ser72del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 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:
RCV002430539.2

Allele description [Variation Report for NM_000551.4(VHL):c.214_216del (p.Ser72del)]

NM_000551.4(VHL):c.214_216del (p.Ser72del)

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.214_216del (p.Ser72del)
HGVS:
  • NC_000003.12:g.10142061_10142063del
  • NG_008212.3:g.5427_5429del
  • NM_000551.4:c.214_216delMANE SELECT
  • NM_001354723.2:c.214_216del
  • NM_198156.3:c.214_216del
  • NP_000542.1:p.Ser72del
  • NP_000542.1:p.Ser72del
  • NP_001341652.1:p.Ser72del
  • NP_937799.1:p.Ser72del
  • LRG_322t1:c.214_216del
  • LRG_322:g.5427_5429del
  • LRG_322p1:p.Ser72del
  • NC_000003.11:g.10183745_10183747del
  • NM_000551.3:c.214_216delTCC
  • NR_176335.1:n.284_286delTCC
Protein change:
S72del
Molecular consequence:
  • NM_000551.4:c.214_216del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354723.2:c.214_216del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198156.3:c.214_216del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV002729251Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002729251.2

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

Description

The c.214_216delTCC variant is located in coding exon 1 of the VHL gene. This variant results from an in-frame TCC deletion of 3 nucleotide between positions 214 and 216, causing the removal of a well-conserved serine residue at codon 72. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6375 samples (12750 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.05% (>2,000 alleles tested) in our clinical cohort (includes this individual). Since supporting evidence is limited at this time, the clinical significance of c.214_216delTCC remains unclear.

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

Last Updated: May 1, 2024