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NM_000162.5(GCK):c.649G>A (p.Asp217Asn) AND Maturity-onset diabetes of the young type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001164187.6

Allele description [Variation Report for NM_000162.5(GCK):c.649G>A (p.Asp217Asn)]

NM_000162.5(GCK):c.649G>A (p.Asp217Asn)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.649G>A (p.Asp217Asn)
Other names:
NM_000162.5(GCK):c.649G>A; p.Asp217Asn
HGVS:
  • NC_000007.14:g.44149790C>T
  • NG_008847.2:g.53381G>A
  • NM_000162.5:c.649G>AMANE SELECT
  • NM_001354800.1:c.649G>A
  • NM_033507.3:c.652G>A
  • NM_033508.3:c.646G>A
  • NP_000153.1:p.Asp217Asn
  • NP_001341729.1:p.Asp217Asn
  • NP_277042.1:p.Asp218Asn
  • NP_277043.1:p.Asp216Asn
  • LRG_1074t1:c.649G>A
  • LRG_1074t2:c.652G>A
  • LRG_1074:g.53381G>A
  • LRG_1074p1:p.Asp217Asn
  • LRG_1074p2:p.Asp218Asn
  • NC_000007.13:g.44189389C>T
  • NM_000162.3:c.649G>A
Protein change:
D216N
Links:
dbSNP: rs147065275
NCBI 1000 Genomes Browser:
rs147065275
Molecular consequence:
  • NM_000162.5:c.649G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.649G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.652G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Maturity-onset diabetes of the young type 2
Synonyms:
MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001326294Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

Beer NL, Osbak KK, van de Bunt M, Tribble ND, Steele AM, Wensley KJ, Edghill EL, Colcough K, Barrett A, Valentínová L, Rundle JK, Raimondo A, Grimsby J, Ellard S, Gloyn AL.

Diabetes Care. 2012 Jul;35(7):1482-4. doi: 10.2337/dc11-2420. Epub 2012 May 18.

PubMed [citation]
PMID:
22611063
PMCID:
PMC3379612

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001326294.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Sep 29, 2024