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NM_003000.2(SDHB):c.3G>A (p.Met1Ile)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 24, 2017
Accession:
VCV000428932.4
Variation ID:
428932
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.3G>A (p.Met1Ile)

Allele ID
420754
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17054017 (GRCh38) GRCh38 UCSC
1: 17380512 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316t1:c.3G>A LRG_316p1:p.Met1Ile
LRG_316:g.5154G>A
NC_000001.10:g.17380512C>T
... more HGVS
Protein change
M1I
Other names
-
Canonical SPDI
NC_000001.11:17054016:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA338230889
dbSNP: rs1131691061
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 24, 2017 RCV000492186.2
Likely pathogenic 1 criteria provided, single submitter Mar 27, 2017 RCV000550393.1
Likely pathogenic 1 criteria provided, single submitter Mar 10, 2017 RCV001379744.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
789 819

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 27, 2017)
criteria provided, single submitter
Method: clinical testing
Paragangliomas 4
Allele origin: germline
Invitae
Accession: SCV000644758.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change affects the initiator methionine of the SDHB mRNA. The next in-frame methionine is located at codon 58. This variant is not present … (more)
Pathogenic
(Aug 24, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000581214.4
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (4)
Comment:
The p.M1? variant (also known as c.3G>A), located in coding exon 1 of the SDHB gene, results from a G to A substitution at nucleotide … (more)
Likely pathogenic
(Mar 10, 2017)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV001577603.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (13)
Comment:
This sequence change affects the initiator methionine of the SDHB mRNA. The next in-frame methionine is located at codon 58. This variant is not present … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. Bennedbæk M Hereditary cancer in clinical practice 2016 PMID: 27279923
Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis. Papathomas TG European journal of endocrinology 2013 PMID: 24096523
Mutation screening in a Norwegian cohort with pheochromocytoma. Sjursen W Familial cancer 2013 PMID: 23407919
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. Miettinen M The American journal of surgical pathology 2013 PMID: 23282968
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. Ricketts CJ The Journal of urology 2012 PMID: 23083876
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. Piccini V Endocrine-related cancer 2012 PMID: 22241717
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Neumann HP Cancer research 2009 PMID: 19351833
R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis. Takekoshi K Endocrine journal 2008 PMID: 18362451
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. Castellano M Annals of the New York Academy of Sciences 2006 PMID: 17102082
Genetic testing in pheochromocytoma or functional paraganglioma. Amar L Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005 PMID: 16314641
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Neumann HP JAMA 2004 PMID: 15328326
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Gimenez-Roqueplo AP Cancer research 2003 PMID: 14500403
Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Benn DE Oncogene 2003 PMID: 12618761

Text-mined citations for rs1131691061...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021