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NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 8, 2023
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:
RCV003764643.1

Allele description

NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)
Other names:
NM_000162.5(GCK):c.1279_1358delinsTTACA
HGVS:
  • NC_000007.14:g.44145176_44145255delinsTGTAA
  • NG_008847.2:g.57916_57995delinsTTACA
  • NM_000162.5:c.1279_1358delinsTTACAMANE SELECT
  • NM_001354800.1:c.1279_1358delinsTTACA
  • NM_001354801.1:c.268_347delinsTTACA
  • NM_001354802.1:c.139_218delinsTTACA
  • NM_001354803.2:c.313_392delinsTTACA
  • NM_033507.3:c.1282_1361delinsTTACA
  • NM_033508.3:c.1276_1355delinsTTACA
  • NP_000153.1:p.Val427_Ser453delinsLeuGln
  • NP_001341729.1:p.Val427_Ser453delinsLeuGln
  • NP_001341730.1:p.Val90_Ser116delinsLeuGln
  • NP_001341731.1:p.Val47_Ser73delinsLeuGln
  • NP_001341732.1:p.Val105_Ser131delinsLeuGln
  • NP_277042.1:p.Val428_Ser454delinsLeuGln
  • NP_277043.1:p.Val426_Ser452delinsLeuGln
  • LRG_1074t1:c.1279_1358delinsTTACA
  • LRG_1074t2:c.1282_1361delinsTTACA
  • LRG_1074:g.57916_57995delinsTTACA
  • LRG_1074p1:p.Val427_Ser453delinsLeuGln
  • LRG_1074p2:p.Val428_Ser454delinsLeuGln
  • NC_000007.13:g.44184775_44184854delinsTGTAA
  • NC_000007.13:g.44184775_44184854delinsTGTAA
  • NM_000162.3:c.1279_1358del80insTTACA
Links:
dbSNP: rs193922274
NCBI 1000 Genomes Browser:
rs193922274
Molecular consequence:
  • NM_000162.5:c.1279_1358delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001354800.1:c.1279_1358delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001354801.1:c.268_347delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001354802.1:c.139_218delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001354803.2:c.313_392delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_033507.3:c.1282_1361delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_033508.3:c.1276_1355delinsTTACA - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV004655144Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 8, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LI, Beards F, Hattersley AT, Ellard S.

Hum Mutat. 2003 Nov;22(5):417.

PubMed [citation]
PMID:
14517956

From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

Sagen JV, Odili S, Bjørkhaug L, Zelent D, Buettger C, Kwagh J, Stanley C, Dahl-Jørgensen K, de Beaufort C, Bell GI, Han Y, Grimsby J, Taub R, Molven A, Søvik O, Njølstad PR, Matschinsky FM.

Diabetes. 2006 Jun;55(6):1713-22.

PubMed [citation]
PMID:
16731834
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV004655144.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GCK protein in which other variant(s) (p.Ser453Leu) have been determined to be pathogenic (PMID: 14517956, 16731834, 18399931; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 36190). This variant has been observed in individual(s) with GCK-related conditions (PMID: 28726111). This variant is not present in population databases (gnomAD no frequency). This variant, c.1279_1358delinsTTACA, is a complex sequence change that results in the deletion of 27 and insertion of 2 amino acid(s) in the GCK protein (p.Val427_Ser453delinsLeuGln).

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

Last Updated: Mar 5, 2024