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NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) AND Pheochromocytoma

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000203508.1

Allele description [Variation Report for NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)]

NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)

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.293A>C (p.Tyr98Ser)
HGVS:
  • NC_000003.12:g.10142140A>C
  • NG_008212.3:g.5506A>C
  • NM_000551.4:c.293A>CMANE SELECT
  • NM_001354723.2:c.293A>C
  • NM_198156.3:c.293A>C
  • NP_000542.1:p.Tyr98Ser
  • NP_000542.1:p.Tyr98Ser
  • NP_001341652.1:p.Tyr98Ser
  • NP_937799.1:p.Tyr98Ser
  • LRG_322t1:c.293A>C
  • LRG_322:g.5506A>C
  • LRG_322p1:p.Tyr98Ser
  • NC_000003.11:g.10183824A>C
  • NM_000551.3:c.293A>C
  • p.[Tyr98Ser]
Protein change:
Y98S
Links:
dbSNP: rs864321643
NCBI 1000 Genomes Browser:
rs864321643
Molecular consequence:
  • NM_000551.4:c.293A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354723.2:c.293A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.293A>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258643Endocrinology Clinic, Seth G.S. Medical College - Spectrum of Germline Mutations in Indian Patients with Pheochromocytoma/ Paraganglioma (PHEO/PGL)
no assertion criteria provided
Likely pathogenic
(Dec 1, 2015) 		germlineresearch

Help

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), SCV000258643.1

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

Last Updated: Oct 8, 2024