NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) AND Maturity-onset diabetes of the young type 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
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:: RCV000029864.3

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]

Observations:

Condition(s)

Name:: Maturity-onset diabetes of the young type 2
Synonyms:: MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000052519	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	likely pathogenic (Aug 18, 2011)	germline	curation, clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052519

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

likely pathogenic
(Aug 18, 2011)

germline

curation, clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	curation
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052519.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided
2	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	not provided
2	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 2

Co-occurrences

#	Zygosity	Alleles	Number of Observations
2	SingleHeterozygote	GCK:c.1253+8C>T, TCF1:c.51C>G, TCF1:c.1501+7G>A, TCF1:c.1720A>G	1

Last Updated: Sep 16, 2023

ClinVar

Relating variation to medicine