NM_003000.3(SDHB):c.703C>T (p.Gln235Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 9, 2023
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:
RCV003780942.1

Allele description

NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)

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.703C>T (p.Gln235Ter)
HGVS:
  • NC_000001.11:g.17022670G>A
  • NG_012340.1:g.36501C>T
  • NM_001407361.1:c.649C>T
  • NM_003000.3:c.703C>TMANE SELECT
  • NP_001394290.1:p.Gln217Ter
  • NP_002991.2:p.Gln235Ter
  • NP_002991.2:p.Gln235Ter
  • LRG_316t1:c.703C>T
  • LRG_316:g.36501C>T
  • LRG_316p1:p.Gln235Ter
  • NC_000001.10:g.17349165G>A
  • NM_003000.2:c.703C>T
Protein change:
Q217*
Molecular consequence:
  • NM_001407361.1:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003000.3:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Gastrointestinal stromal tumor
Synonyms:
Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
Identifiers:
MONDO: MONDO:0011719; MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723
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
Name:
Pheochromocytoma
Synonyms:
Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004569083Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 9, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.

Bayley JP, Bausch B, Rijken JA, van Hulsteijn LT, Jansen JC, Ascher D, Pires DEV, Hes FJ, Hensen EF, Corssmit EPM, Devilee P, Neumann HPH.

J Med Genet. 2020 Feb;57(2):96-103. doi: 10.1136/jmedgenet-2019-106214. Epub 2019 Sep 6.

PubMed [citation]
PMID:
31492822

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F, Coupier I, Thieblot P, Lecomte P, Bertherat J, Wion-Barbot N, Murat A, Venisse A, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP; PGL.NET network..

J Clin Endocrinol Metab. 2009 Aug;94(8):2817-27. doi: 10.1210/jc.2008-2504. Epub 2009 May 19.

PubMed [citation]
PMID:
19454582
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV004569083.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with paraganglioma-pheochromocytoma syndromes (PMID: 31492822). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln235*) in the SDHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024