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NM_003000.3(SDHB):c.141G>A (p.Trp47Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 4, 2021
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:
RCV002393173.3

Allele description [Variation Report for NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)]

NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)

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.141G>A (p.Trp47Ter)
HGVS:
  • NC_000001.11:g.17044820C>T
  • NG_012340.1:g.14351G>A
  • NM_003000.3:c.141G>AMANE SELECT
  • NP_002991.2:p.Trp47Ter
  • NP_002991.2:p.Trp47Ter
  • LRG_316t1:c.141G>A
  • LRG_316:g.14351G>A
  • LRG_316p1:p.Trp47Ter
  • NC_000001.10:g.17371315C>T
  • NM_003000.2:c.141G>A
Protein change:
W47*
Links:
dbSNP: rs1060503762
NCBI 1000 Genomes Browser:
rs1060503762
Molecular consequence:
  • NM_003000.3:c.141G>A - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002699760Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 4, 2021) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

Bayley JP, van Minderhout I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, Williams R, Blair E, Devilee P, Taschner PE.

BMC Med Genet. 2006 Jan 11;7:1.

PubMed [citation]
PMID:
16405730
PMCID:
PMC1343542

Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.

Srirangalingam U, Khoo B, Walker L, MacDonald F, Skelly RH, George E, Spooner D, Johnston LB, Monson JP, Grossman AB, Drake WM, Akker SA, Pollard PJ, Plowman N, Avril N, Berney DM, Burrin JM, Reznek RH, Kumar VK, Maher ER, Chew SL.

Endocr Relat Cancer. 2009 Jun;16(2):515-25. doi: 10.1677/ERC-08-0239. Epub 2009 Feb 10.

PubMed [citation]
PMID:
19208735
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002699760.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The p.W47* pathogenic mutation (also known as c.141G>A), located in coding exon 2 of the SDHB gene, results from a G to A substitution at nucleotide position 141. This changes the amino acid from a tryptophan to a stop codon within coding exon 2. This alteration has been identified in multiple individuals with a personal and/or family history of paragangliomas or pheochromocytomas (Bayley JP et al. BMC Med Genet, 2006 Jan;7:1; Srirangalingam U et al. Endocr Relat Cancer, 2009 Jun;16:515-25; Tuthill M et al. BMJ Case Rep, 2009 Feb;2009:; Hensen EF et al. Clin Genet, 2012 Mar;81:284-8; Andrews KA et al. J Med Genet, 2018 06;55:384-394). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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