NM_000230.3(LEP):c.21C>T (p.Cys7=) AND Monogenic Non-Syndromic Obesity

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:
RCV000317286.1

Allele description [Variation Report for NM_000230.3(LEP):c.21C>T (p.Cys7=)]

NM_000230.3(LEP):c.21C>T (p.Cys7=)

Gene:
LEP:leptin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_000230.3(LEP):c.21C>T (p.Cys7=)
HGVS:
  • NC_000007.14:g.128252039C>T
  • NG_007450.1:g.15762C>T
  • NM_000230.3:c.21C>TMANE SELECT
  • NP_000221.1:p.Cys7=
  • NC_000007.13:g.127892092C>T
  • NM_000230.2:c.21C>T
Links:
dbSNP: rs201523305
NCBI 1000 Genomes Browser:
rs201523305
Molecular consequence:
  • NM_000230.3:c.21C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Monogenic Non-Syndromic Obesity
Identifiers:
MedGen: CN239457

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000466622Illumina 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, SCV000466622.2

#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: Oct 30, 2020

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