NM_003000.3(SDHB):c.331_332del (p.Leu111fs) AND Hereditary Paraganglioma-Pheochromocytoma Syndromes

Clinical significance:Pathogenic

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:
RCV000505308.1

Allele description [Variation Report for NM_003000.3(SDHB):c.331_332del (p.Leu111fs)]

NM_003000.3(SDHB):c.331_332del (p.Leu111fs)

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.3(SDHB):c.331_332del (p.Leu111fs)
HGVS:
  • NC_000001.11:g.17028691AG[1]
  • NG_012340.1:g.30477CT[1]
  • NM_003000.3:c.331_332delMANE SELECT
  • NP_002991.2:p.Leu111fs
  • LRG_316:g.30477CT[1]
  • NC_000001.10:g.17355186AG[1]
  • NM_003000.2:c.331_332delCT
Protein change:
L111fs
Links:
dbSNP: rs1060503751
NCBI 1000 Genomes Browser:
rs1060503751
Molecular consequence:
  • NM_003000.3:c.331_332del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary Paraganglioma-Pheochromocytoma Syndromes (PGL-PCC)
Synonyms:
Hereditary Paragangliomas and Pheochromocytomas
Identifiers:
MONDO: MONDO:0017366; MedGen: C1708353

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000599504Section on Medical Neuroendocrinolgy,National Institutes of Healthno assertion criteria providedPathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Section on Medical Neuroendocrinolgy,National Institutes of Health, SCV000599504.1

#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, 2021

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