NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) 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:
RCV000505385.1

Allele description [Variation Report for NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)]

NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)

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.342T>A (p.Tyr114Ter)
HGVS:
  • NC_000011.10:g.112094832T>A
  • NG_012337.3:g.12986T>A
  • NM_001276503.2:c.197T>A
  • NM_001276504.2:c.225T>A
  • NM_001276506.2:c.*40T>A
  • NM_003002.4:c.342T>AMANE SELECT
  • NP_001263432.1:p.Met66Lys
  • NP_001263433.1:p.Tyr75Ter
  • NP_002993.1:p.Tyr114Ter
  • LRG_9t1:c.342T>A
  • LRG_9:g.12986T>A
  • LRG_9p1:p.Tyr114Ter
  • NC_000011.9:g.111965556T>A
  • NM_003002.3:c.342T>A
  • NR_077060.2:n.431T>A
Protein change:
M66K
Links:
dbSNP: rs1050032491
NCBI 1000 Genomes Browser:
rs1050032491
Molecular consequence:
  • NM_001276506.2:c.*40T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276503.2:c.197T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.2:n.431T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001276504.2:c.225T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003002.4:c.342T>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000599543Section 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, SCV000599543.1

#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 27, 2021

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