U.S. flag

An official website of the United States government

NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 27, 2022
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:
RCV000215175.4

Allele description [Variation Report for NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)]

NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)

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.640C>T (p.Gln214Ter)
HGVS:
  • NC_000001.11:g.17023975G>A
  • NG_012340.1:g.35196C>T
  • NM_003000.3:c.640C>TMANE SELECT
  • NP_002991.2:p.Gln214Ter
  • NP_002991.2:p.Gln214Ter
  • LRG_316t1:c.640C>T
  • LRG_316:g.35196C>T
  • LRG_316p1:p.Gln214Ter
  • NC_000001.10:g.17350470G>A
  • NM_003000.2:c.640C>T
Protein change:
Q214*
Links:
dbSNP: rs876658461
NCBI 1000 Genomes Browser:
rs876658461
Molecular consequence:
  • NM_003000.3:c.640C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000273710Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jul 27, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Relapsing pheochromocytoma in a Chinese women caused by a novel mutation in exon 6 of the SDHB gene: a case report.

Reusch J, Haag C, Raue F, Badenhoop K.

Exp Clin Endocrinol Diabetes. 2007 Oct;115(9):616-8.

PubMed [citation]
PMID:
17943698

Ischemic stroke and rhabdomyolysis in a 15-year-old girl with paraganglioma due to an SDHB exon 6 (Q214X) mutation.

Kim MS, Muratore C, Snelling L, Mandelbaum DE, McEachern R, Mangray S, Faizan M, Quintos JB.

J Pediatr Endocrinol Metab. 2009 Jun;22(6):565-71.

PubMed [citation]
PMID:
19694205

Details of each submission

From Ambry Genetics, SCV000273710.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.Q214* pathogenic mutation (also known as c.640C>T) located in coding exon 6 of the SDHB gene, results from a C to T substitution at nucleotide position 640. This changes the amino acid from a glutamine to a stop codon within coding exon 6. This mutation was first described in a 40-year-old Chinese female with a recurrent pheochromocytoma in the left adrenal gland. The patient's first pheochromocytoma had been removed 18 years prior to this study (Reusch J et al. Exp Clin Endocrinol Diabetes. 2007;115(9):616-8). It was also identified in a 15 year-old female with hypertension due to a functional abdominal paraganglioma (Kim MS et al. J. Pediatr. Endocrinol. Metab. 2009 Jun; 22(6):565-71). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024