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NM_003000.3(SDHB):c.287-1G>C AND Paragangliomas 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 2, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000332692.4

Allele description [Variation Report for NM_003000.3(SDHB):c.287-1G>C]

NM_003000.3(SDHB):c.287-1G>C

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.287-1G>C
HGVS:
  • NC_000001.11:g.17028737C>G
  • NG_012340.1:g.30434G>C
  • NM_001407361.1:c.287-1G>C
  • NM_003000.3:c.287-1G>CMANE SELECT
  • LRG_316t1:c.287-1G>C
  • LRG_316:g.30434G>C
  • NC_000001.10:g.17355232C>G
  • NM_003000.2:c.287-1G>C
  • c.287-1G>C
Links:
dbSNP: rs397516833
NCBI 1000 Genomes Browser:
rs397516833
Molecular consequence:
  • NM_001407361.1:c.287-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_003000.3:c.287-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Paragangliomas 4 (PPGL4)
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
SCV000677729Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))
Pathogenic
(May 2, 2017)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar AV, Izatt L, Lalloo F, Brennan P, Cook J, Morrison PJ, Canham N, Armstrong R, Brewer C, Tomkins S, Donaldson A, Barwell J, Cole TR, Atkinson AB, Aylwin S, Ball SG, Srirangalingam U, et al.

Clin Endocrinol (Oxf). 2013 Jun;78(6):898-906. doi: 10.1111/cen.12074. Epub 2013 Apr 6.

PubMed [citation]
PMID:
23072324

Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

Timmers HJ, Kozupa A, Eisenhofer G, Raygada M, Adams KT, Solis D, Lenders JW, Pacak K.

J Clin Endocrinol Metab. 2007 Mar;92(3):779-86. Epub 2007 Jan 2.

PubMed [citation]
PMID:
17200167
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000677729.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024