NM_003000.3(SDHB):c.424-37TTC[6] AND Carney-Stratakis syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000307606.2

Allele description [Variation Report for NM_003000.3(SDHB):c.424-37TTC[6]]

NM_003000.3(SDHB):c.424-37TTC[6]

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.3(SDHB):c.424-37TTC[6]
HGVS:
  • NC_000001.11:g.17027879_17027881GAA[6]
  • NG_012340.1:g.31269_31271TTC[6]
  • NM_003000.3:c.424-37TTC[6]MANE SELECT
  • LRG_316:g.31269_31271TTC[6]
  • NC_000001.10:g.17354374_17354376GAA[6]
  • NC_000001.10:g.17354374_17354379del
  • NM_003000.2:c.424-19_424-14delTTCTTC
Links:
dbSNP: rs34261028
NCBI 1000 Genomes Browser:
rs34261028
Molecular consequence:
  • NM_003000.3:c.424-37TTC[6] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Carney-Stratakis syndrome
Synonyms:
Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011740; MedGen: C1847319; Orphanet: 97286; OMIM: 606864

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000351424Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000351424.2

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

Last Updated: Sep 29, 2021

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