NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) AND Maturity onset diabetes mellitus in young

Germline classification:: Uncertain significance (1 submission)
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:: RCV002287346.2

Allele description [Variation Report for NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)]

NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)

Other names:

NM_000162.5(GCK):c.1372_1373del; p.Lys458fs

HGVS:

NC_000007.14:g.44145161_44145162del
NG_008847.2:g.58009_58010del
NM_000162.5:c.1372_1373delMANE SELECT
NM_001354800.1:c.1369+3_1369+4del
NM_001354801.1:c.361_362del
NM_001354802.1:c.229+3_229+4del
NM_001354803.2:c.406_407del
NM_033507.3:c.1375_1376del
NM_033508.3:c.1369_1370del
NP_000153.1:p.Lys458fs
NP_001341730.1:p.Lys121fs
NP_001341732.1:p.Lys136fs
NP_277042.1:p.Lys459fs
NP_277043.1:p.Lys457fs
LRG_1074t1:c.1372_1373del
LRG_1074t2:c.1375_1376del
LRG_1074:g.58009_58010del
LRG_1074p1:p.Lys458fs
LRG_1074p2:p.Lys459fs
NC_000007.13:g.44184760_44184761del
NM_000162.3:c.1372_1373delAA
p.Lys458GlufsX8+

Protein change:

K121fs

Links:

dbSNP: rs193922284

NCBI 1000 Genomes Browser:

rs193922284

Molecular consequence:

NM_000162.5:c.1372_1373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354801.1:c.361_362del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354803.2:c.406_407del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033507.3:c.1375_1376del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033508.3:c.1369_1370del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354800.1:c.1369+3_1369+4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354802.1:c.229+3_229+4del - intron variant - [Sequence Ontology: SO:0001627]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002577625	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Uncertain significance	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

SCV002577625

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

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

Uncertain significance

unknown

research

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

Citation Link

Help

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, SCV002577625.1

#	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 well. However, there is no sufficient evidence to assertain the significance of rs193922284 in MODY, yet. This variant is shown to be potentially damaging by insilico analysis.

#	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

Last Updated: Sep 16, 2023

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