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NM_014276.4(RBPJL):c.839C>T (p.Thr280Met) AND Type 2 diabetes mellitus

Germline classification:
risk factor (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000626384.5

Allele description [Variation Report for NM_014276.4(RBPJL):c.839C>T (p.Thr280Met)]

NM_014276.4(RBPJL):c.839C>T (p.Thr280Met)

Gene:
RBPJL:recombination signal binding protein for immunoglobulin kappa J region like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_014276.4(RBPJL):c.839C>T (p.Thr280Met)
HGVS:
  • NC_000020.11:g.45314116C>T
  • NM_001281448.2:c.839C>T
  • NM_001281449.2:c.839C>T
  • NM_014276.4:c.839C>TMANE SELECT
  • NP_001268377.1:p.Thr280Met
  • NP_001268378.1:p.Thr280Met
  • NP_055091.2:p.Thr280Met
  • NC_000020.10:g.43942756C>T
  • NM_014276.3:c.839C>T
Protein change:
T280M
Links:
dbSNP: rs200998587
NCBI 1000 Genomes Browser:
rs200998587
Molecular consequence:
  • NM_001281448.2:c.839C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281449.2:c.839C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014276.4:c.839C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • decreased_translational_product_level [Sequence Ontology: SO:0001555]
  • functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Name:
Type 2 diabetes mellitus
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:
MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000608401Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health
no assertion criteria provided
risk factorgermlinecase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
American Indiangermlineyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health, SCV000608401.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1American Indiannot providednot providednot providedcase-controlnot provided

Description

The variant allele associates with increased risk of T2D. In in-vtro studies the variant allele reduces protein expression and also effects tranactivation capability

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024