NM_000162.5(GCK):c.115_117del (p.Lys39del) AND Maturity onset diabetes mellitus in young

Germline classification:: no classifications from unflagged records (1 submission)
Last evaluated:: Jun 6, 2024
Review status:: no classifications from unflagged records

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:: RCV002464439.2

Allele description [Variation Report for NM_000162.5(GCK):c.115_117del (p.Lys39del)]

NM_000162.5(GCK):c.115_117del (p.Lys39del)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.115_117del (p.Lys39del)

HGVS:

NC_000007.14:g.44153394_44153396del
NG_008847.2:g.49777_49779del
NM_000162.5:c.115_117delMANE SELECT
NM_001354800.1:c.115_117del
NM_033507.3:c.118_120del
NM_033508.3:c.112_114del
NP_000153.1:p.Lys39del
NP_001341729.1:p.Lys39del
NP_277042.1:p.Lys40del
NP_277043.1:p.Lys38del
LRG_1074t1:c.115_117del
LRG_1074t2:c.118_120del
LRG_1074:g.49777_49779del
LRG_1074p1:p.Lys39del
LRG_1074p2:p.Lys40del
NC_000007.13:g.44192991_44192993del
NC_000007.13:g.44192993_44192995del
NM_000162.3:c.115_117del

Protein change:

K38del

Links:

dbSNP: rs2096283216

NCBI 1000 Genomes Browser:

rs2096283216

Molecular consequence:

NM_000162.5:c.115_117del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354800.1:c.115_117del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033507.3:c.118_120del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033508.3:c.112_114del - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Recent activity

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Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA
Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA
gi|33620776|ref|NM_004235.2|

Nucleotide
RecName: Full=Glutathione S-transferase C-terminal domain-containing protein
RecName: Full=Glutathione S-transferase C-terminal domain-containing protein
gi|167008865|sp|Q8NEC7.2|GSTCD_HUMA

Protein
LOC100493041 [Xenopus tropicalis]
LOC100493041 [Xenopus tropicalis]
Gene ID:100493041

Gene

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No clinical assertions found. See "Flagged submissions" below.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Clinical implications of the glucokinase impaired function - GCK MODY today.

Hulín J, Škopková M, Valkovičová T, Mikulajová S, Rosoľanková M, Papcun P, Gašperíková D, Staník J.

Physiol Res. 2020 Dec 22;69(6):995-1011. Epub 2020 Nov 2. Review.

PubMed [citation]

PMID:: 33129248
PMCID:: PMC8549873

GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature.

Ping Xiao Y, Hua Xu X, Lan Fang Y, Jiang L, Chen C, Liang L, Lin Wang C.

J Pediatr Endocrinol Metab. 2016 Aug 1;29(8):959-64. doi: 10.1515/jpem-2015-0354. Review.

PubMed [citation]

PMID:: 27269892

See all PubMed Citations (6)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605422.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (6)

Description

Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs2096283216 in MODY, yet.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002605422	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Likely benign	unknown	research	PubMed (6) [See all records that cite these PMIDs] 33129248, 27269892, 32375122, 31197960, 30257192, 29510678 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002605422

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: None

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Likely benign

unknown

research

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Last Updated: Oct 8, 2024

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