NM_000162.5(GCK):c.1129C>A (p.Arg377Ser) AND Maturity onset diabetes mellitus in young

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 2018
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:
RCV002325992.3

Allele description [Variation Report for NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)]

NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)
Other names:
NM_000162.5(GCK):c.1129C>A; p.Arg377Ser
HGVS:
  • NC_000007.14:g.44145621G>T
  • NG_008847.2:g.57550C>A
  • NM_000162.5:c.1129C>AMANE SELECT
  • NM_001354800.1:c.1129C>A
  • NM_001354801.1:c.118C>A
  • NM_001354802.1:c.-12C>A
  • NM_001354803.2:c.163C>A
  • NM_033507.3:c.1132C>A
  • NM_033508.3:c.1126C>A
  • NP_000153.1:p.Arg377Ser
  • NP_001341729.1:p.Arg377Ser
  • NP_001341730.1:p.Arg40Ser
  • NP_001341732.1:p.Arg55Ser
  • NP_277042.1:p.Arg378Ser
  • NP_277043.1:p.Arg376Ser
  • LRG_1074t1:c.1129C>A
  • LRG_1074t2:c.1132C>A
  • LRG_1074:g.57550C>A
  • LRG_1074p1:p.Arg377Ser
  • LRG_1074p2:p.Arg378Ser
  • NC_000007.13:g.44185220G>T
  • NM_000162.3:c.1129C>A
Protein change:
R376S
Molecular consequence:
  • NM_001354802.1:c.-12C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000162.5:c.1129C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.1129C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354801.1:c.118C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354803.2:c.163C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.1132C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.1126C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Maturity onset diabetes mellitus in young (MODY)
Synonyms:
Mason type diabetes
Identifiers:
MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002608404Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 27, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL.

Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Review.

PubMed [citation]
PMID:
19790256

Details of each submission

From Ambry Genetics, SCV002608404.2

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

Description

The p.R377S variant (also known as c.1129C>A), located in coding exon 9 of the GCK gene, results from a C to A substitution at nucleotide position 1129. The arginine at codon 377 is replaced by serine, an amino acid with dissimilar properties. This variant was reported in one family; however, clinical information was not provided (Osbak KK et al. Hum. Mutat., 2009 Nov;30:1512-26). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024