NM_003849.3(SUCLG1):c.98-13_98-11delTTT AND not provided

Clinical significance:Likely benign (Last evaluated: Oct 12, 2017)

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:
RCV000677032.1

Allele description [Variation Report for NM_003849.3(SUCLG1):c.98-13_98-11delTTT]

NM_003849.3(SUCLG1):c.98-13_98-11delTTT

Gene:
SUCLG1:succinate-CoA ligase alpha subunit [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_003849.3(SUCLG1):c.98-13_98-11delTTT
HGVS:
  • NC_000002.12:g.84449763_84449765delAAA
  • NM_003849.3:c.98-13_98-11delTTT
  • NC_000002.11:g.84676887_84676889delAAA
Links:
dbSNP: rs56733272
NCBI 1000 Genomes Browser:
rs56733272
Molecular consequence:
  • NM_003849.3:c.98-13_98-11delTTT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802866Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedLikely benign
(Oct 12, 2017)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802866.1

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

Last Updated: Mar 30, 2019

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