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NM_003000.3(SDHB):c.32G>A (p.Arg11His) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 10, 2020
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:
RCV001253761.8

Allele description [Variation Report for NM_003000.3(SDHB):c.32G>A (p.Arg11His)]

NM_003000.3(SDHB):c.32G>A (p.Arg11His)

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.32G>A (p.Arg11His)
HGVS:
  • NC_000001.11:g.17053988C>T
  • NG_012340.1:g.5183G>A
  • NM_003000.3:c.32G>AMANE SELECT
  • NP_002991.2:p.Arg11His
  • NP_002991.2:p.Arg11His
  • LRG_316t1:c.32G>A
  • LRG_316:g.5183G>A
  • LRG_316p1:p.Arg11His
  • NC_000001.10:g.17380483C>T
  • NM_003000.2:c.32G>A
Protein change:
R11H
Links:
dbSNP: rs111430410
NCBI 1000 Genomes Browser:
rs111430410
Molecular consequence:
  • NM_003000.3:c.32G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

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
Name:
Paraganglioma
Synonyms:
Carotid body tumor
Identifiers:
MONDO: MONDO:0000448; MedGen: C0030421; OMIM: PS168000; Human Phenotype Ontology: HP:0002668

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001429630Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jul 10, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Cancer Variant Interpretation Group UK, Institute of Cancer Research, London, SCV001429630.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

This variant has been observed in a 52-year-old proband diagnosed with three primary renal cell carcinomas, bilateral disease, multiple renal cysts and single angiomyolipoma. This variant has also been observed in three unrelated (to our knowledge) diagnostic cases of PP/PGL (one of which has inner ear PGL). This variant has previously been reported in the literature in patients with bilateral renal cell carcinoma (PMID: 18728283) and neuroendocrine tumour (PMID: 19576851). Succinate:Fumarate ratio in tumour samples from a patient with this variant were observed to be within normal range, indicating neutral impact on protein function (PMID: 30050099) (BS3_supporting). This variant has been observed in 149/274308 total alleles in gnomAD; including 133/24062 African alleles (BS1_strong). Data included in classification: Functional data and control (gnomAD) data Data not included in classification: Incidence in literature and other reported probands In silico predictions (conflicting)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Nov 24, 2024