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NM_003001.5(SDHC):c.367C>T (p.Pro123Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 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:
RCV002451169.4

Allele description [Variation Report for NM_003001.5(SDHC):c.367C>T (p.Pro123Ser)]

NM_003001.5(SDHC):c.367C>T (p.Pro123Ser)

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.367C>T (p.Pro123Ser)
HGVS:
  • NC_000001.11:g.161356802C>T
  • NG_012767.1:g.47427C>T
  • NM_001035511.3:c.242-5527C>T
  • NM_001035512.3:c.265C>T
  • NM_001035513.3:c.208C>T
  • NM_001278172.3:c.140-5527C>T
  • NM_001407115.1:c.487C>T
  • NM_001407116.1:c.310C>T
  • NM_001407117.1:c.304C>T
  • NM_001407118.1:c.259C>T
  • NM_001407119.1:c.256C>T
  • NM_001407120.1:c.256C>T
  • NM_001407121.1:c.185-5527C>T
  • NM_003001.5:c.367C>TMANE SELECT
  • NP_001030589.1:p.Pro89Ser
  • NP_001030590.1:p.Pro70Ser
  • NP_001394044.1:p.Pro163Ser
  • NP_001394045.1:p.Pro104Ser
  • NP_001394046.1:p.Pro102Ser
  • NP_001394047.1:p.Pro87Ser
  • NP_001394048.1:p.Pro86Ser
  • NP_001394049.1:p.Pro86Ser
  • NP_002992.1:p.Pro123Ser
  • NP_002992.1:p.Pro123Ser
  • LRG_317t1:c.367C>T
  • LRG_317:g.47427C>T
  • LRG_317p1:p.Pro123Ser
  • NC_000001.10:g.161326592C>T
  • NM_003001.3:c.367C>T
  • NR_103459.3:n.419C>T
Protein change:
P102S
Links:
dbSNP: rs773039986
NCBI 1000 Genomes Browser:
rs773039986
Molecular consequence:
  • NM_001035511.3:c.242-5527C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278172.3:c.140-5527C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407121.1:c.185-5527C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001035512.3:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001035513.3:c.208C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407115.1:c.487C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407116.1:c.310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407117.1:c.304C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407118.1:c.259C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407119.1:c.256C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407120.1:c.256C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003001.5:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103459.3:n.419C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002615256Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 22, 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

Vitamin E protects against lipid peroxidation and rescues tumorigenic phenotypes in cowden/cowden-like patient-derived lymphoblast cells with germline SDHx variants.

Ni Y, Eng C.

Clin Cancer Res. 2012 Sep 15;18(18):4954-61. Epub 2012 Jul 24.

PubMed [citation]
PMID:
22829200
PMCID:
PMC3445717

Details of each submission

From Ambry Genetics, SCV002615256.3

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

Description

The p.P123S variant (also known as c.367C>T), located in coding exon 5 of the SDHC gene, results from a C to T substitution at nucleotide position 367. The proline at codon 123 is replaced by serine, an amino acid with similar properties. This alteration has been identified in a cohort of patients with Cowden/Cowden-like syndrome, but has not been identified in a cohort of paraganglioma/pheochromocytoma patients (Ni Y, et al. Clin. Cancer Res. 2012 Sep; 18(18):4954-61). 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