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NM_003001.5(SDHC):c.214C>G (p.Arg72Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 16, 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:
RCV002432431.3

Allele description [Variation Report for NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)]

NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)

Gene:
SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
HGVS:
  • NC_000001.11:g.161340628C>G
  • NG_012767.1:g.31253C>G
  • NM_001035511.3:c.214C>G
  • NM_001035512.3:c.112C>G
  • NM_001035513.3:c.55C>G
  • NM_001278172.3:c.112C>G
  • NM_001407115.1:c.334C>G
  • NM_001407116.1:c.157C>G
  • NM_001407117.1:c.157C>G
  • NM_001407118.1:c.112C>G
  • NM_001407119.1:c.103C>G
  • NM_001407120.1:c.103C>G
  • NM_001407121.1:c.157C>G
  • NM_003001.5:c.214C>GMANE SELECT
  • NP_001030588.1:p.Arg72Gly
  • NP_001030588.1:p.Arg72Gly
  • NP_001030589.1:p.Arg38Gly
  • NP_001030589.1:p.Arg38Gly
  • NP_001030590.1:p.Arg19Gly
  • NP_001030590.1:p.Arg19Gly
  • NP_001265101.1:p.Arg38Gly
  • NP_001265101.1:p.Arg38Gly
  • NP_001394044.1:p.Arg112Gly
  • NP_001394045.1:p.Arg53Gly
  • NP_001394046.1:p.Arg53Gly
  • NP_001394047.1:p.Arg38Gly
  • NP_001394048.1:p.Arg35Gly
  • NP_001394049.1:p.Arg35Gly
  • NP_001394050.1:p.Arg53Gly
  • NP_002992.1:p.Arg72Gly
  • NP_002992.1:p.Arg72Gly
  • LRG_317t1:c.214C>G
  • LRG_317:g.31253C>G
  • LRG_317p1:p.Arg72Gly
  • NC_000001.10:g.161310418C>G
  • NM_001035511.2:c.214C>G
  • NM_001035512.2:c.112C>G
  • NM_001035513.2:c.55C>G
  • NM_001278172.2:c.112C>G
  • NM_003001.3:c.214C>G
  • NR_103459.2:n.266C>G
  • NR_103459.3:n.266C>G
Protein change:
R112G
Molecular consequence:
  • NM_001035511.3:c.214C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001035512.3:c.112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001035513.3:c.55C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278172.3:c.112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407115.1:c.334C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407116.1:c.157C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407117.1:c.157C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407118.1:c.112C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407119.1:c.103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407120.1:c.103C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407121.1:c.157C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003001.5:c.214C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002728027Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 16, 2020) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Crystal structure of mitochondrial respiratory membrane protein complex II.

Sun F, Huo X, Zhai Y, Wang A, Xu J, Su D, Bartlam M, Rao Z.

Cell. 2005 Jul 1;121(7):1043-57.

PubMed [citation]
PMID:
15989954

Mutations in the heme b-binding residue of SDHC inhibit assembly of respiratory chain complex II in mammalian cells.

Lemarie A, Grimm S.

Mitochondrion. 2009 Jul;9(4):254-60. doi: 10.1016/j.mito.2009.03.004. Epub 2009 Mar 28.

PubMed [citation]
PMID:
19332149
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV002728027.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The p.R72G pathogenic mutation (also known as c.214C>G), located in coding exon 4 of the SDHC gene, results from a C to G substitution at nucleotide position 214. The arginine at codon 72 is replaced by glycine, an amino acid with dissimilar properties. This mutation has been reported in a 32-year-old female individual with a norepinephrine-positive head and neck paraganglioma (Else T et al. J. Clin. Endocrinol. Metab., 2014 Aug;99:E1482-6). Another alteration at the same codon, p.R72H (c.215G>A), has been described in multiple individuals with a paraganglioma (Burnichon N et al. J Clin Endocrinol Metab, 2009 Aug;94:2817-27; Buffet A et al. Horm Metab Res, 2012 May;44:359-66; Gupta S et al. Endocr Pathol, 2016 Sep;27:243-52). Based on internal structural analysis, p.R72G disrupts the catalytic function of succinate dehydrogenase, via impacts on quinone binding and/or reduction to quinol (Sun F et al. Cell, 2005 Jul;121:1043-57; Lemarie A et al. Mitochondrion, 2009 Jul;9:254-60; Kluckova K et al. Cell Death Dis, 2015 May;6:e1749). In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024