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NM_000162.5(GCK):c.394G>A (p.Asp132Asn) AND Maturity-onset diabetes of the young type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2020
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:
RCV001249061.5

Allele description [Variation Report for NM_000162.5(GCK):c.394G>A (p.Asp132Asn)]

NM_000162.5(GCK):c.394G>A (p.Asp132Asn)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
HGVS:
  • NC_000007.14:g.44151045C>T
  • NG_008847.2:g.52126G>A
  • NM_000162.5:c.394G>AMANE SELECT
  • NM_001354800.1:c.394G>A
  • NM_033507.3:c.397G>A
  • NM_033508.3:c.391G>A
  • NP_000153.1:p.Asp132Asn
  • NP_001341729.1:p.Asp132Asn
  • NP_277042.1:p.Asp133Asn
  • NP_277043.1:p.Asp131Asn
  • LRG_1074t1:c.394G>A
  • LRG_1074t2:c.397G>A
  • LRG_1074:g.52126G>A
  • LRG_1074p1:p.Asp132Asn
  • LRG_1074p2:p.Asp133Asn
  • NC_000007.13:g.44190644C>T
  • NM_000162.3:c.394G>A
Protein change:
D131N
Links:
dbSNP: rs762419802
NCBI 1000 Genomes Browser:
rs762419802
Molecular consequence:
  • NM_000162.5:c.394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.391G>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
SCV001423008Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 22, 2020) 		germlinecuration

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 providedcuration

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 Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV001423008.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The p.Asp132Asn variant in GCK has been reported in an individual with maturity-onset diabetes of the young (MODY) and another individual with diabetes but not MODY (PMID: 18382660, 29207974), but has been identified in 0.006% (1/16248) of African chromosomes and 0.0009% (1/113664) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs762419802). Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Asp132Asn variant is uncertain. ACMG/AMP Criteria applied: PM2 (Richards 2015).

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

Last Updated: Jul 29, 2024