NM_002303.6(LEPR):c.1029T>C (p.Ser343=) AND Leptin receptor deficiency

Clinical significance:Likely benign (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:
RCV000346307.2

Allele description [Variation Report for NM_002303.6(LEPR):c.1029T>C (p.Ser343=)]

NM_002303.6(LEPR):c.1029T>C (p.Ser343=)

Gene:
LEPR:leptin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_002303.6(LEPR):c.1029T>C (p.Ser343=)
HGVS:
  • NC_000001.11:g.65601426T>C
  • NG_015831.2:g.185862T>C
  • NM_001003679.3:c.1029T>C
  • NM_001003680.3:c.1029T>C
  • NM_001198687.2:c.1029T>C
  • NM_001198688.1:c.1029T>C
  • NM_001198689.2:c.1029T>C
  • NM_002303.5:c.1029T>C
  • NM_002303.6:c.1029T>CMANE SELECT
  • NP_001003679.1:p.Ser343=
  • NP_001003680.1:p.Ser343=
  • NP_001185616.1:p.Ser343=
  • NP_001185617.1:p.Ser343=
  • NP_001185618.1:p.Ser343=
  • NP_002294.2:p.Ser343=
  • NP_002294.2:p.Ser343=
  • LRG_283t1:c.1029T>C
  • LRG_283t2:c.1029T>C
  • LRG_283t3:c.1029T>C
  • LRG_283t4:c.1029T>C
  • LRG_283:g.185862T>C
  • LRG_283p1:p.Ser343=
  • LRG_283p2:p.Ser343=
  • LRG_283p3:p.Ser343=
  • LRG_283p4:p.Ser343=
  • NC_000001.10:g.66067109T>C
Links:
dbSNP: rs1805134
NCBI 1000 Genomes Browser:
rs1805134
Molecular consequence:
  • NM_001003679.3:c.1029T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001003680.3:c.1029T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001198687.2:c.1029T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001198688.1:c.1029T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001198689.2:c.1029T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002303.5:c.1029T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002303.6:c.1029T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Leptin receptor deficiency (LEPRD)
Identifiers:
MONDO: MONDO:0013992; MedGen: C3554225; OMIM: 614963

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000358810Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

LEPR gene polymorphisms: associations with overweight, fat mass and response to diet in women.

Mammès O, Aubert R, Betoulle D, Péan F, Herbeth B, Visvikis S, Siest G, Fumeron F.

Eur J Clin Invest. 2001 May;31(5):398-404.

PubMed [citation]
PMID:
11380591

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000358810.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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