NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 18, 2024
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:: RCV002413384.4

Allele description [Variation Report for NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)]

NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)

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.183T>G (p.Tyr61Ter)

HGVS:

NC_000001.11:g.17044778A>C
NG_012340.1:g.14393T>G
NM_003000.3:c.183T>GMANE SELECT
NP_002991.2:p.Tyr61Ter
NP_002991.2:p.Tyr61Ter
LRG_316t1:c.183T>G
LRG_316:g.14393T>G
LRG_316p1:p.Tyr61Ter
NC_000001.10:g.17371273A>C
NM_003000.2:c.183T>G

Protein change:

Y61*

Links:

dbSNP: rs760169139

NCBI 1000 Genomes Browser:

rs760169139

Molecular consequence:

NM_003000.3:c.183T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Hereditary neoplastic syndrome; 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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002717032	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 18, 2024)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20418362, 28374168 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002717032

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 18, 2024)

germline

clinical testing

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

Citation Link

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

Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

Lodish MB, Adams KT, Huynh TT, Prodanov T, Ling A, Chen C, Shusterman S, Jimenez C, Merino M, Hughes M, Cradic KW, Milosevic D, Singh RJ, Stratakis CA, Pacak K.

Endocr Relat Cancer. 2010 Jun 3;17(3):581-8. doi: 10.1677/ERC-10-0004. Print 2010 Sep.

PubMed [citation]

PMID:: 20418362
PMCID:: PMC3417306

Jochmanova I, Wolf KI, King KS, Nambuba J, Wesley R, Martucci V, Raygada M, Adams KT, Prodanov T, Fojo AT, Lazurova I, Pacak K.

J Cancer Res Clin Oncol. 2017 Aug;143(8):1421-1435. doi: 10.1007/s00432-017-2397-3. Epub 2017 Apr 3.

PubMed [citation]

PMID:: 28374168
PMCID:: PMC5505780

Details of each submission

From Ambry Genetics, SCV002717032.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.Y61* pathogenic mutation (also known as c.183T>G), located in coding exon 2 of the SDHB gene, results from a T to G substitution at nucleotide position 183. This changes the amino acid from a tyrosine to a stop codon within coding exon 2. This alteration has been detected in multiple individuals diagnosed with a paraganglioma or pheochromocytoma (Lodish MB et al. Endocr Relat Cancer. 2010 Sep;17:581-8; Jochmanova I et al. J Cancer Res Clin Oncol. 2017 Aug;143:1421-1435; Ambry internal data). 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.

#	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: Dec 7, 2025

ClinVar

Relating variation to medicine