NM_000551.3(VHL):c.548C>G (p.Ser183Trp) AND Pheochromocytoma

Clinical significance:Likely pathogenic (Last evaluated: Dec 1, 2015)

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:
RCV000203537.1

Allele description [Variation Report for NM_000551.3(VHL):c.548C>G (p.Ser183Trp)]

NM_000551.3(VHL):c.548C>G (p.Ser183Trp)

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:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.3(VHL):c.548C>G (p.Ser183Trp)
HGVS:
  • NC_000003.12:g.10149871C>G
  • NG_008212.3:g.13237C>G
  • NG_046756.1:g.7633C>G
  • NM_000551.3:c.548C>G
  • NM_001354723.2:c.*102C>G
  • NM_198156.3:c.425C>G
  • NP_000542.1:p.Ser183Trp
  • NP_937799.1:p.Ser142Trp
  • LRG_322t1:c.548C>G
  • LRG_322:g.13237C>G
  • LRG_322p1:p.Ser183Trp
  • NC_000003.11:g.10191555C>G
Protein change:
S142W
Links:
dbSNP: rs5030823
NCBI 1000 Genomes Browser:
rs5030823
Molecular consequence:
  • NM_001354723.2:c.*102C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.3:c.548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.425C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000258641Endocrinology Clinic, Seth G.S. Medical College - Spectrum of Germline Mutations in Indian Patients with Pheochromocytoma/ Paraganglioma (PHEO/PGL)no assertion criteria providedLikely pathogenic
(Dec 1, 2015)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Endocrinology Clinic, Seth G.S. Medical College - Spectrum of Germline Mutations in Indian Patients with Pheochromocytoma/ Paraganglioma (PHEO/PGL), SCV000258641.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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