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NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND Monogenic diabetes

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 22, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000445429.5

Allele description [Variation Report for NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)]

NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)

Gene:
KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
HGVS:
  • NC_000011.10:g.17387284G>C
  • NG_012446.1:g.6376C>G
  • NM_000525.4:c.808C>GMANE SELECT
  • NM_001166290.2:c.547C>G
  • NM_001377296.1:c.547C>G
  • NM_001377297.1:c.547C>G
  • NP_000516.3:p.Leu270Val
  • NP_000516.3:p.Leu270Val
  • NP_001159762.1:p.Leu183Val
  • NP_001364225.1:p.Leu183Val
  • NP_001364226.1:p.Leu183Val
  • NC_000011.9:g.17408831G>C
  • NM_000525.3:c.808C>G
Protein change:
L183V
Links:
dbSNP: rs1800467
NCBI 1000 Genomes Browser:
rs1800467
Molecular consequence:
  • NM_000525.4:c.808C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166290.2:c.547C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377296.1:c.547C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377297.1:c.547C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Monogenic diabetes
Identifiers:
MONDO: MONDO:0015967; MedGen: C3888631

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000537077Personalized Diabetes Medicine Program, University of Maryland School of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Feb 22, 2019) 		unknownresearch

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

type2diabetesgenetics.org

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown27not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Personalized Diabetes Medicine Program, University of Maryland School of Medicine, SCV000537077.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided27not providednot providedresearch PubMed (1)

Description

ACMG criteria: BA1 (4% overall MAF in gnomAD, 11% MAF in EF, 6.8% in AJ), BS2 (936 cases and 916 controls in T2DM): benign (Revel score 0.344 + PP3 (4 predictors) + BP4 (5 predictors): conflicing evidence, not using; no longer using BP6)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided27not providednot providednot provided

Last Updated: Sep 29, 2024