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NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 2, 2024
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:
RCV003482262.2

Allele description [Variation Report for NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)]

NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)
Other names:
NM_000162.5(GCK):c.1322C>T; p.Ser441Leu
HGVS:
  • NC_000007.14:g.44145212G>A
  • NG_008847.2:g.57959C>T
  • NM_000162.5:c.1322C>TMANE SELECT
  • NM_001354800.1:c.1322C>T
  • NM_001354801.1:c.311C>T
  • NM_001354802.1:c.182C>T
  • NM_001354803.2:c.356C>T
  • NM_033507.3:c.1325C>T
  • NM_033508.3:c.1319C>T
  • NP_000153.1:p.Ser441Leu
  • NP_001341729.1:p.Ser441Leu
  • NP_001341730.1:p.Ser104Leu
  • NP_001341731.1:p.Ser61Leu
  • NP_001341732.1:p.Ser119Leu
  • NP_277042.1:p.Ser442Leu
  • NP_277043.1:p.Ser440Leu
  • LRG_1074t1:c.1322C>T
  • LRG_1074t2:c.1325C>T
  • LRG_1074:g.57959C>T
  • LRG_1074p1:p.Ser441Leu
  • LRG_1074p2:p.Ser442Leu
  • NC_000007.13:g.44184811G>A
  • NM_000162.3:c.1322C>T
  • p.SER441LEU
Protein change:
S104L
Links:
dbSNP: rs1286804191
NCBI 1000 Genomes Browser:
rs1286804191
Molecular consequence:
  • NM_000162.5:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354801.1:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354802.1:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354803.2:c.356C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.1325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.1319C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000613412Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Uncertain significance
(Jan 2, 2024) 		unknownclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge JA, Stewart H, Alamiri E, Hussain K, Wallis S, de Vries L, Rubio-Cabezas O, Houghton JA, Edghill EL, Patch AM, Ellard S, Hattersley AT.

Cell Metab. 2014 Jan 7;19(1):146-54. doi: 10.1016/j.cmet.2013.11.021.

PubMed [citation]
PMID:
24411943
PMCID:
PMC3887257

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H; International NDM Consortium., Flanagan SE, Van De Bunt M, Hattersley AT, Gloyn AL, Ellard S; International NDM Consortium..

Hum Mol Genet. 2014 Dec 15;23(24):6432-40. doi: 10.1093/hmg/ddu360. Epub 2014 Jul 11.

PubMed [citation]
PMID:
25015100
PMCID:
PMC4240195
See all PubMed Citations (7)

Details of each submission

From Athena Diagnostics, SCV000613412.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with MODY and at least one individual with permanent neonatal diabetes mellitus. One other missense mutation found at the same codon position is classified as pathogenic. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 37101203)

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

Last Updated: Oct 26, 2024