SDHB:c.487T>C (p.Ser163Pro) AND Cowden-like syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 5, 2013)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013633.16

Allele description [Variation Report for SDHB:c.487T>C (p.Ser163Pro)]

Gene:
SDHB:succinate dehydrogenase complex, subunit B, iron sulfur (Ip) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
SDHB:c.487T>C (p.Ser163Pro)
HGVS:
  • NC_000001.11:g.17027802A>G
  • NG_012340.1:g.31369T>C
  • NM_003000.2:c.487T>C
  • NP_002991.2:p.Ser163Pro
  • NC_000001.10:g.17354297A>G
Protein change:
S163P; SER163PRO
Links:
OMIM: 185470.0015; dbSNP: 33927012
NCBI 1000 Genomes Browser:
rs33927012
Allele Frequency:
0.0095, GO-ESP
Molecular consequence:
  • NM_003000.2:c.487T>C: missense variant [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cowden-like syndrome (CWS2)
Synonyms:
COWDEN DISEASE 2; COWDEN SYNDROME 2
Identifiers:
MedGen: C2676500; OMIM: 612359; Orphanet: 201
Age of onset:
Variable
Prevalence:
1-9 / 1 000 000 201

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000033880OMIMPathogenic
(Mar 5, 2013)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C.

Am J Hum Genet. 2008 Aug;83(2):261-8. doi: 10.1016/j.ajhg.2008.07.011.

PubMed [citation]
PMID:
18678321
PMCID:
PMC2495063

Details of each submission

From OMIM, SCV000033880.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 women with a Cowden-like phenotype (CWD2; 612359), Ni et al. (2008) identified a pro163-to-ser (P163S) substitution in the SDHB gene. This mutation was not found in 700 control subjects. This mutation was associated with increased manganese superoxide dismutase function, increased reactive oxygen species, and a 2.7-fold change in AKT expression and 1.7-fold increase in MAPK expression. The patients, 29 and 54 years old, had thyroid cancer, and both had a family history of breast cancer and papillary thyroid carcinoma.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2014

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