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NM_003001.5(SDHC):c.200T>C (p.Met67Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 12, 2023
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:
RCV002422550.4

Allele description [Variation Report for NM_003001.5(SDHC):c.200T>C (p.Met67Thr)]

NM_003001.5(SDHC):c.200T>C (p.Met67Thr)

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.200T>C (p.Met67Thr)
HGVS:
  • NC_000001.11:g.161340614T>C
  • NG_012767.1:g.31239T>C
  • NM_001035511.3:c.200T>C
  • NM_001035512.3:c.98T>C
  • NM_001035513.3:c.41T>C
  • NM_001278172.3:c.98T>C
  • NM_001407115.1:c.320T>C
  • NM_001407116.1:c.143T>C
  • NM_001407117.1:c.143T>C
  • NM_001407118.1:c.98T>C
  • NM_001407119.1:c.89T>C
  • NM_001407120.1:c.89T>C
  • NM_001407121.1:c.143T>C
  • NM_003001.5:c.200T>CMANE SELECT
  • NP_001030588.1:p.Met67Thr
  • NP_001030588.1:p.Met67Thr
  • NP_001030589.1:p.Met33Thr
  • NP_001030589.1:p.Met33Thr
  • NP_001030590.1:p.Met14Thr
  • NP_001030590.1:p.Met14Thr
  • NP_001265101.1:p.Met33Thr
  • NP_001265101.1:p.Met33Thr
  • NP_001394044.1:p.Met107Thr
  • NP_001394045.1:p.Met48Thr
  • NP_001394046.1:p.Met48Thr
  • NP_001394047.1:p.Met33Thr
  • NP_001394048.1:p.Met30Thr
  • NP_001394049.1:p.Met30Thr
  • NP_001394050.1:p.Met48Thr
  • NP_002992.1:p.Met67Thr
  • NP_002992.1:p.Met67Thr
  • LRG_317t1:c.200T>C
  • LRG_317:g.31239T>C
  • LRG_317p1:p.Met67Thr
  • NC_000001.10:g.161310404T>C
  • NM_001035511.2:c.200T>C
  • NM_001035512.2:c.98T>C
  • NM_001035513.2:c.41T>C
  • NM_001278172.2:c.98T>C
  • NM_003001.3:c.200T>C
  • NR_103459.2:n.252T>C
  • NR_103459.3:n.252T>C
Protein change:
M107T
Links:
dbSNP: rs1287584713
NCBI 1000 Genomes Browser:
rs1287584713
Molecular consequence:
  • NM_001035511.3:c.200T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001035512.3:c.98T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001035513.3:c.41T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278172.3:c.98T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407115.1:c.320T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407116.1:c.143T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407117.1:c.143T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407118.1:c.98T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407119.1:c.89T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407120.1:c.89T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407121.1:c.143T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003001.5:c.200T>C - 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
SCV002722876Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 12, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S, Gieldon L, Pang Y, Peitzsch M, Huynh T, Leton R, Viana B, Ercolino T, Mangelis A, Rapizzi E, Menschikowski M, Aust D, Kroiss M, Beuschlein F, Gudziol V, Timmers HJ, Lenders J, Mannelli M, Cascon A, Pacak K, Robledo M, Eisenhofer G, et al.

Genet Med. 2019 Mar;21(3):705-717. doi: 10.1038/s41436-018-0106-5. Epub 2018 Jul 27.

PubMed [citation]
PMID:
30050099
PMCID:
PMC6353556

Details of each submission

From Ambry Genetics, SCV002722876.3

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

Description

The p.M67T variant (also known as c.200T>C), located in coding exon 4 of the SDHC gene, results from a T to C substitution at nucleotide position 200. The methionine at codon 67 is replaced by threonine, an amino acid with similar properties. This alteration, identified as a variant of unknown significance, was identified in an individual with a paraganglioma (Richter S et al. Genet. Med., 2019 03;21:705-717). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024