NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) AND Hereditary pheochromocytoma-paraganglioma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 30, 2012
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:: RCV000037723.6

Allele description [Variation Report for NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)]

NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)

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.600G>A (p.Trp200Ter)

HGVS:

NC_000001.11:g.17024015C>T
NG_012340.1:g.35156G>A
NM_003000.3:c.600G>AMANE SELECT
NP_002991.2:p.Trp200Ter
NP_002991.2:p.Trp200Ter
LRG_316t1:c.600G>A
LRG_316:g.35156G>A
LRG_316p1:p.Trp200Ter
NC_000001.10:g.17350510C>T
NM_003000.2:c.600G>A
c.600G>A
p.Trp200X

Protein change:

W200*

Links:

dbSNP: rs397516836

NCBI 1000 Genomes Browser:

rs397516836

Molecular consequence:

NM_003000.3:c.600G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Hereditary pheochromocytoma-paraganglioma
Synonyms:: Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
Identifiers:: MONDO: MONDO:0017366; MedGen: C1708353

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061385	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (Jul 30, 2012)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 20505258, 22517554, 16405730, 12000816, 22429592, 22041710, 19522823, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061385

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(Jul 30, 2012)

germline

clinical testing

PubMed (8)
[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	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene.

Oishi Y, Nagai S, Yoshida M, Fujisawa S, Sazawa A, Shinohara N, Nonomura K, Matsuno K, Shimizu C.

Endocr J. 2010;57(8):745-50. Epub 2010 May 25.

PubMed [citation]

PMID:: 20505258

Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

Lefebvre S, Borson-Chazot F, Boutry-Kryza N, Wion N, Schillo F, Peix JL, Brunaud L, Finat A, Calender A, Giraud S.

Horm Metab Res. 2012 May;44(5):334-8. doi: 10.1055/s-0032-1306308. Epub 2012 Apr 19.

PubMed [citation]

PMID:: 22517554

See all PubMed Citations (8)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061385.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (8)

Description

The Trp200X variant in SDHB has not been previously reported in the literature n or previously identified by our laboratory. This nonsense variant is predicted t o result in a premature termination codon at position 200 and lead to a truncate d or absent protein. Heterozygous loss of function variants in the SDHB gene hav e been reported in patients with hereditary pheochromocytomas and paragangliomas (Neumann, 2002; Pasini and Stratakis, 2009). In summary, this variant is likely to be pathogenic, though segregation studies and functional analyses are requir ed to fully establish the pathogenicity of this variant.

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

Last Updated: Apr 15, 2024

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