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NM_000551.4(VHL):c.154G>T (p.Glu52Ter) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 14, 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:
RCV002505196.1

Allele description [Variation Report for NM_000551.4(VHL):c.154G>T (p.Glu52Ter)]

NM_000551.4(VHL):c.154G>T (p.Glu52Ter)

Gene:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
Other names:
p.E52*:GAG>TAG
HGVS:
  • NC_000003.12:g.10142001G>T
  • NG_008212.3:g.5367G>T
  • NM_000551.4:c.154G>TMANE SELECT
  • NM_001354723.2:c.154G>T
  • NM_198156.3:c.154G>T
  • NP_000542.1:p.Glu52Ter
  • NP_000542.1:p.Glu52Ter
  • NP_001341652.1:p.Glu52Ter
  • NP_937799.1:p.Glu52Ter
  • LRG_322t1:c.154G>T
  • LRG_322:g.5367G>T
  • LRG_322p1:p.Glu52Ter
  • NC_000003.11:g.10183685G>T
  • NM_000551.3:c.154G>T
  • p.Glu52X
Protein change:
E52*
Links:
dbSNP: rs373068386
NCBI 1000 Genomes Browser:
rs373068386
Molecular consequence:
  • NM_000551.4:c.154G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354723.2:c.154G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198156.3:c.154G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Chuvash polycythemia
Synonyms:
POLYCYTHEMIA, VHL-DEPENDENT; Erythrocytosis, familial, 2
Identifiers:
MONDO: MONDO:0009892; MedGen: C1837915; Orphanet: 238557; OMIM: 263400
Name:
Pheochromocytoma
Synonyms:
Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666
Name:
Von Hippel-Lindau syndrome (VHLS)
Synonyms:
VHL syndrome; Von Hippel-Lindau
Identifiers:
MONDO: MONDO:0008667; MedGen: C0019562; Orphanet: 892; OMIM: 193300
Name:
Nonpapillary renal cell carcinoma
Identifiers:
MONDO: MONDO:0007763; MedGen: CN074294; Orphanet: 422526; OMIM: 144700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002814828Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 14, 2022) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002814828.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024