NM_001354723.2(VHL):c.*84_*90del AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Aug 16, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000855722.1

Allele description [Variation Report for NM_001354723.2(VHL):c.*84_*90del]

NM_001354723.2(VHL):c.*84_*90del

Genes:
LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_001354723.2(VHL):c.*84_*90del
HGVS:
  • NC_000003.12:g.10149853_10149859del
  • NG_008212.3:g.13219_13225del
  • NG_046756.1:g.7615_7621del
  • NM_000551.3:c.530_536del
  • NM_001354723.2:c.*84_*90del
  • NM_198156.3:c.407_413del
  • NP_000542.1:p.Arg177fs
  • NP_937799.1:p.Arg136fs
  • LRG_322t1:c.530_536del
  • LRG_322:g.13219_13225del
  • LRG_322p1:p.Arg177fs
  • NC_000003.11:g.10191537_10191543del
  • NM_000551.3:c.530_536delGACTGGA
Protein change:
R136fs
Links:
dbSNP: rs1575932266
NCBI 1000 Genomes Browser:
rs1575932266
Molecular consequence:
  • NM_001354723.2:c.*84_*90del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.3:c.530_536del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198156.3:c.407_413del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Von Hippel-Lindau syndrome (VHLS)
Synonyms:
VHL syndrome; Von Hippel-Lindau
Identifiers:
MONDO: MONDO:0008667; MedGen: C0019562; Orphanet: 892; OMIM: 193300
Name:
Cerebellar hemangioblastoma
Synonyms:
Hemangioblastoma, sporadic cerebellar
Identifiers:
MONDO: MONDO:0003901; MedGen: C1332900; Human Phenotype Ontology: HP:0006880
Name:
Renal cell carcinoma, papillary, 1 (RCCP1)
Synonyms:
RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC; Renal adenocarcinoma; Renal cell carcinoma 1; See all synonyms [MedGen]
Identifiers:
MedGen: C1336839; Orphanet: 47044; OMIM: 605074; Human Phenotype Ontology: HP:0011797
Name:
Skin adenoma
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000963100Cancer medicine,Gaomi People's Hospitalno assertion criteria providedPathogenic
(Aug 16, 2017)
inheritedclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asianinheritedyes21not providednot providednot providedclinical testing

Details of each submission

From Cancer medicine,Gaomi People's Hospital, SCV000963100.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian2not providednot providedclinical testingnot provided

Description

This variation (c.530_536delGACTGGA in VHL) is pathogenic, leading to hemangioblastoma in cerebellar tumors, metastasis of renal carcinoma and bilateral multiple nephridial cysts. This mutation may result in the alterations of the amino acid at position 177 (arginine) and the subsequent amino acids to form an abnormal VHL protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not provided1not provided

Last Updated: Oct 7, 2021

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