NM_003002.3(SDHD):c.341A>G (p.Tyr114Cys) AND Tumor predisposition syndrome

Clinical significance:Pathogenic (Last evaluated: Apr 28, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000221353.1

Allele description

NM_003002.3(SDHD):c.341A>G (p.Tyr114Cys)

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.341A>G (p.Tyr114Cys)
HGVS:
  • NC_000011.10:g.112094831A>G
  • NG_012337.3:g.12985A>G
  • NM_001276506.1:c.*39A>G
  • NM_003002.3:c.341A>G
  • NP_002993.1:p.Tyr114Cys
  • NC_000011.9:g.111965555A>G
  • NG_012337.2:g.12985A>G
  • NM_003002.2:c.341A>G
  • NR_077060.1:n.479A>G
Protein change:
Y114C; TYR114CYS
Links:
OMIM: 602690.0007; dbSNP: rs104894304
NCBI 1000 Genomes Browser:
rs104894304
Molecular consequence:
  • NM_001276506.1:c.*39A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_003002.3:c.341A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.1:n.479A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000275206Ambry Geneticscriteria provided, single submitter
Pathogenic
(Apr 28, 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, SCV000275206.1

#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

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