NM_003000.3(SDHB):c.654G>A (p.Trp218Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 9, 2018
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:: RCV000760404.1

Allele description [Variation Report for NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)]

NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)

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.654G>A (p.Trp218Ter)

HGVS:

NC_000001.11:g.17022719C>T
NG_012340.1:g.36452G>A
NM_003000.3:c.654G>AMANE SELECT
NP_002991.2:p.Trp218Ter
NP_002991.2:p.Trp218Ter
LRG_316t1:c.654G>A
LRG_316:g.36452G>A
LRG_316p1:p.Trp218Ter
NC_000001.10:g.17349214C>T
NM_003000.2:c.654G>A

Protein change:

W218*

Links:

dbSNP: rs916516745

NCBI 1000 Genomes Browser:

rs916516745

Molecular consequence:

NM_003000.3:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000890279	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 9, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000890279

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 9, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000890279.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is denoted SDHB c.654G>A at the cDNA level and p.Trp218Ter (W218X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in individuals with pheochromocytomas or paragangliomas (Burnichon 2009, Eijkelenkamp 2016, Rijken 2017) and is considered pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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