NM_003000.3(SDHB):c.716C>G (p.Ser239Cys) AND Pheochromocytoma

Clinical significance:Uncertain significance (Last evaluated: Jun 1, 2014)

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:
RCV000148869.2

Allele description [Variation Report for NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)]

NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)
HGVS:
  • NC_000001.11:g.17022657G>C
  • NG_012340.1:g.36514C>G
  • NM_003000.2:c.716C>G
  • NM_003000.3:c.716C>GMANE SELECT
  • NP_002991.2:p.Ser239Cys
  • NP_002991.2:p.Ser239Cys
  • LRG_316t1:c.716C>G
  • LRG_316:g.36514C>G
  • LRG_316p1:p.Ser239Cys
  • NC_000001.10:g.17349152G>C
  • NC_000001.10:g.17349152G>C
Protein change:
S239C
Links:
dbSNP: rs201098090
NCBI 1000 Genomes Browser:
rs201098090
Molecular consequence:
  • NM_003000.2:c.716C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003000.3:c.716C>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
SCV000190613CSER _CC_NCGL, University of Washington - ESP 6500 variant annotationno assertion criteria providedUncertain significance
(Jun 1, 2014)
germlineresearch

Description

Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript

SCV000190613

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190613.1

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

Last Updated: Oct 25, 2021

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