NM_003000.3(SDHB):c.418G>T (p.Val140Phe) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Nov 6, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000505751.9

Allele description [Variation Report for NM_003000.3(SDHB):c.418G>T (p.Val140Phe)]

NM_003000.3(SDHB):c.418G>T (p.Val140Phe)

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.418G>T (p.Val140Phe)

HGVS:

NC_000001.11:g.17028605C>A
NG_012340.1:g.30566G>T
NM_003000.3:c.418G>TMANE SELECT
NP_002991.2:p.Val140Phe
NP_002991.2:p.Val140Phe
LRG_316t1:c.418G>T
LRG_316:g.30566G>T
LRG_316p1:p.Val140Phe
NC_000001.10:g.17355100C>A
NM_003000.2:c.418G>T
p.V140F

Protein change:

V140F; VAL140PHE

Links:

OMIM: 185470.0016; dbSNP: rs267607032

NCBI 1000 Genomes Browser:

rs267607032

Molecular consequence:

NM_003000.3:c.418G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000235632	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 6, 2023)	germline	clinical testing	Citation Link,
SCV000843761	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely pathogenic (Aug 7, 2018)	germline	clinical testing	PubMed (16) [See all records that cite these PMIDs] 18840642, 16912137, 20503330, 490809, 19927285, 20418362, 19215943, 25683602, 28374168, 26236513, 27171833, 28503760, 29951630, 19189136, 20583550, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000235632

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Nov 6, 2023)

germline

clinical testing

Citation Link,

SCV000843761

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely pathogenic
(Aug 7, 2018)

germline

clinical testing

PubMed (16)
[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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.

Timmers HJ, Pacak K, Huynh TT, Abu-Asab M, Tsokos M, Merino MJ, Baysal BE, Adams KT, Eisenhofer G.

J Clin Endocrinol Metab. 2008 Dec;93(12):4826-32. doi: 10.1210/jc.2008-1093. Epub 2008 Oct 7.

PubMed [citation]

PMID:: 18840642
PMCID:: PMC2626451

High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

Brouwers FM, Eisenhofer G, Tao JJ, Kant JA, Adams KT, Linehan WM, Pacak K.

J Clin Endocrinol Metab. 2006 Nov;91(11):4505-9. Epub 2006 Aug 15.

PubMed [citation]

PMID:: 16912137

See all PubMed Citations (16)

Details of each submission

From GeneDx, SCV000235632.9

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

Description

Observed frequently in unrelated patients from different ethnic backgrounds with SDHB-related tumors, several of whom had tumor studies consistent with pathogenic variants in this gene (PMID: 18840642, 19189136, 19576851, 19927285, 20503330, 22588707, 25683602, 29204718, 30050099); Segregates with disease in many affected individuals in several kindreds referred for genetic testing at GeneDx and in published literature (PMID: 20583550, 20503330); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26236513, 20418362, 22588707, 29386252, 34906457, 30050099, 16912137, 20503330, 19927285, 20583550, 19189136, 18840642, 19576851, 22270996, 19802898, 25025441, 25683602, 26273102, 27910947, 27171833, 28374168, 28490599, 28748451, 29204718, 28503760, 29951630, 28152038, 32062700, 32035780, 32741965, 30787465, Hochfelder[abstract], 34703596, 20213850, 34308104, 27535533)

#	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

From Athena Diagnostics, SCV000843761.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (16)

#	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: Oct 13, 2024

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