NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 26, 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:: RCV000471400.10

Allele description [Variation Report for NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)]

NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)

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.79C>T (p.Arg27Ter)

HGVS:

NC_000001.11:g.17044882G>A
NG_012340.1:g.14289C>T
NM_003000.3:c.79C>TMANE SELECT
NP_002991.2:p.Arg27Ter
NP_002991.2:p.Arg27Ter
LRG_316t1:c.79C>T
LRG_316:g.14289C>T
LRG_316p1:p.Arg27Ter
NC_000001.10:g.17371377G>A
NM_003000.2:c.79C>T
p.R27*

Protein change:

R27*; ARG27TER

Links:

OMIM: 185470.0006; dbSNP: rs74315369

NCBI 1000 Genomes Browser:

rs74315369

Molecular consequence:

NM_003000.3:c.79C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000554026	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 26, 2023)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 12000816, 12362046, 14685938, 18382370, 19415531, 25215250, 19454582, 19802898, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000554026

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 26, 2023)

germline

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Germ-line mutations in nonsyndromic pheochromocytoma.

Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, et al.

N Engl J Med. 2002 May 9;346(19):1459-66.

PubMed [citation]

PMID:: 12000816

SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.

Cascón A, Cebrián A, Ruiz-Llorente S, Tellería D, Benítez J, Robledo M.

J Med Genet. 2002 Oct;39(10):E64. No abstract available.

PubMed [citation]

PMID:: 12362046
PMCID:: PMC1734998

See all PubMed Citations (9)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000554026.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

Description

This variant is also known as C213T. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 12783). This premature translational stop signal has been observed in individual(s) with pheochromocytoma (PMID: 12000816, 12362046, 14685938, 18382370, 19415531, 25215250). This variant is present in population databases (rs74315369, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg27*) 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).

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

Last Updated: Nov 10, 2024

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