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NM_000162.5(GCK):c.1156del (p.Leu386fs) AND Maturity onset diabetes mellitus in young

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 7, 2015
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:
RCV002355448.2

Allele description [Variation Report for NM_000162.5(GCK):c.1156del (p.Leu386fs)]

NM_000162.5(GCK):c.1156del (p.Leu386fs)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1156del (p.Leu386fs)
HGVS:
  • NC_000007.14:g.44145594del
  • NG_008847.2:g.57577del
  • NM_000162.5:c.1156delMANE SELECT
  • NM_001354800.1:c.1156del
  • NM_001354801.1:c.145del
  • NM_001354802.1:c.16del
  • NM_001354803.2:c.190del
  • NM_033507.3:c.1159del
  • NM_033508.3:c.1153del
  • NP_000153.1:p.Leu386fs
  • NP_001341729.1:p.Leu386fs
  • NP_001341730.1:p.Leu49fs
  • NP_001341731.1:p.Leu6fs
  • NP_001341732.1:p.Leu64fs
  • NP_277042.1:p.Leu387fs
  • NP_277043.1:p.Leu385fs
  • LRG_1074t1:c.1156del
  • LRG_1074t2:c.1159del
  • LRG_1074:g.57577del
  • LRG_1074p1:p.Leu386fs
  • LRG_1074p2:p.Leu387fs
  • NC_000007.13:g.44185193del
  • NM_000162.3:c.1156delC
Protein change:
L385fs
Molecular consequence:
  • NM_000162.5:c.1156del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354800.1:c.1156del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354801.1:c.145del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354802.1:c.16del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354803.2:c.190del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033507.3:c.1159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033508.3:c.1153del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002623585Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(May 7, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002623585.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1156delC (p.L386Wfs*16) pathogenic mutation, located in coding exon 9 of the GCK gene, results from a deletion of one nucleotide at position 1156, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: Sep 29, 2024