NM_003002.3(SDHD):c.33C>A (p.Cys11Ter) AND Tumor predisposition syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 2, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000221327.1

Allele description

NM_003002.3(SDHD):c.33C>A (p.Cys11Ter)

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.3(SDHD):c.33C>A (p.Cys11Ter)
HGVS:
  • NC_000011.10:g.112086940C>A
  • NG_012337.3:g.5094C>A
  • NM_003002.3:c.33C>A
  • NP_002993.1:p.Cys11Ter
  • NC_000011.9:g.111957664C>A
  • NG_012337.2:g.5094C>A
  • NM_003002.2:c.33C>A
  • NR_077060.1:n.117C>A
Protein change:
C11*; CYS11TER
Links:
OMIM: 602690.0025; dbSNP: rs104894309
NCBI 1000 Genomes Browser:
rs104894309
Molecular consequence:
  • NR_077060.1:n.117C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_003002.3:c.33C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Tumor predisposition syndrome (TPDS)
Identifiers:
MedGen: C3280492; Orphanet: 289539; OMIM: 614327
Age of onset:
Adult

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000274061Ambry Geneticscriteria provided, single submitter
Pathogenic
(Feb 2, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000274061.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: May 29, 2016