NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) AND Cowden syndrome 2

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2008)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013632.20

Allele description [Variation Report for NM_003000.2(SDHB):c.8C>G (p.Ala3Gly)]

NM_003000.2(SDHB):c.8C>G (p.Ala3Gly)

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_003000.2(SDHB):c.8C>G (p.Ala3Gly)
HGVS:
  • NC_000001.11:g.17054012G>C
  • NG_012340.1:g.5159C>G
  • NM_003000.2:c.8C>G
  • NP_002991.2:p.Ala3Gly
  • LRG_316t1:c.8C>G
  • LRG_316:g.5159C>G
  • LRG_316p1:p.Ala3Gly
  • NC_000001.10:g.17380507G>C
  • P21912:p.Ala3Gly
  • p.A3G
Protein change:
A3G; ALA3GLY
Links:
UniProtKB: P21912#VAR_054374; OMIM: 185470.0014; dbSNP: 11203289
GMAF:
0.0134(C), 11203289
NCBI 1000 Genomes Browser:
rs11203289
Allele Frequency:
0.00436(C), GO-ESP
Molecular consequence:
  • NM_003000.2:c.8C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cowden syndrome 2 (CWS2)
Synonyms:
Cowden-like syndrome
Identifiers:
MedGen: C3552552; Orphanet: 201; OMIM: 612359

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033879OMIMno assertion criteria providedPathogenic
(Aug 1, 2008)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes 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, SCV000033879.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with a Cowden-like phenotype (CWS2; 612359), Ni et al. (2008) identified a heterozygous C-to-G transversion in the SDHB gene, resulting in an ala3-to-gly (A3G) substitution. The mutation was not identified in 700 control subjects. This mutation was associated with increased manganese superoxide dismutase expression, normal reactive oxygen species, and a 1.2-fold increase in AKT expression and 1.3-fold change in MAPK expression. The patient was a 41-year-old woman with breast cancer and uterine leiomyomas and a family history of endometrial cancer.

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

Last Updated: Apr 27, 2018