NM_003002.4(SDHD):c.148C>G (p.His50Asp) AND Hereditary Paraganglioma-Pheochromocytoma Syndromes

Clinical significance:Uncertain significance

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:
RCV000505346.1

Allele description [Variation Report for NM_003002.4(SDHD):c.148C>G (p.His50Asp)]

NM_003002.4(SDHD):c.148C>G (p.His50Asp)

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.4(SDHD):c.148C>G (p.His50Asp)
HGVS:
  • NC_000011.10:g.112087952C>G
  • NG_012337.3:g.6106C>G
  • NG_033145.1:g.3847G>C
  • NM_001276503.2:c.148C>G
  • NM_001276504.2:c.53-915C>G
  • NM_001276506.2:c.148C>G
  • NM_003002.4:c.148C>GMANE SELECT
  • NP_001263432.1:p.His50Asp
  • NP_001263435.1:p.His50Asp
  • NP_002993.1:p.His50Asp
  • LRG_9t1:c.148C>G
  • LRG_9:g.6106C>G
  • LRG_9p1:p.His50Asp
  • NC_000011.9:g.111958676C>G
  • NM_003002.2:c.148C>G
  • NM_003002.3:c.148C>G
  • NR_077060.2:n.183C>G
Protein change:
H50D
Links:
dbSNP: rs779249550
NCBI 1000 Genomes Browser:
rs779249550
Molecular consequence:
  • NM_001276504.2:c.53-915C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276503.2:c.148C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276506.2:c.148C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003002.4:c.148C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.2:n.183C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000599536Section on Medical Neuroendocrinolgy,National Institutes of Healthno assertion criteria providedUncertain significancegermlineresearch

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, SCV000599536.1

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

Last Updated: Nov 20, 2021

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