NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) AND Paragangliomas 4

Clinical significance:Uncertain significance (Last evaluated: Dec 8, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409187.1

Allele description [Variation Report for NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)]

NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)

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.112C>T (p.Arg38Cys)
HGVS:
  • NC_000001.11:g.17044849G>A
  • NG_012340.1:g.14322C>T
  • NM_003000.2:c.112C>T
  • NM_003000.3:c.112C>TMANE SELECT
  • NP_002991.2:p.Arg38Cys
  • NP_002991.2:p.Arg38Cys
  • LRG_316t1:c.112C>T
  • LRG_316:g.14322C>T
  • LRG_316p1:p.Arg38Cys
  • NC_000001.10:g.17371344G>A
Protein change:
R38C
Links:
dbSNP: rs202119350
NCBI 1000 Genomes Browser:
rs202119350
Molecular consequence:
  • NM_003000.2:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003000.3:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Paragangliomas 4 (PGL4)
Synonyms:
CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; Pheochromocytoma, extraadrenal and cervical paraganglioma; Paragangliomas, hereditary extraadrenal; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007273; MedGen: C1861848; Orphanet: 29072; OMIM: 115310

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000487960Counsylcriteria provided, single submitter
Uncertain significance
(Dec 8, 2015)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.

de Cubas AA, Leandro-García LJ, Schiavi F, Mancikova V, Comino-Méndez I, Inglada-Pérez L, Perez-Martinez M, Ibarz N, Ximénez-Embún P, López-Jiménez E, Maliszewska A, Letón R, Gómez Graña A, Bernal C, Alvarez-Escolá C, Rodríguez-Antona C, Opocher G, Muñoz J, Megias D, Cascón A, Robledo M.

Endocr Relat Cancer. 2013 Jun 24;20(4):477-93. doi: 10.1530/ERC-12-0183. Print 2013 Aug.

PubMed [citation]
PMID:
23660872

Details of each submission

From Counsyl, SCV000487960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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