NM_000162.5(GCK):c.635_637del (p.Ser212del) 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:: RCV000029900.2

Allele description [Variation Report for NM_000162.5(GCK):c.635_637del (p.Ser212del)]

NM_000162.5(GCK):c.635_637del (p.Ser212del)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.635_637del (p.Ser212del)

HGVS:

NC_000007.14:g.44149804_44149806del
NG_008847.2:g.53367_53369del
NM_000162.3:c.635_637del
NM_000162.5:c.635_637delMANE SELECT
NM_001354800.1:c.635_637del
NM_033507.3:c.638_640del
NM_033508.3:c.632_634del
NP_000153.1:p.Ser212del
NP_001341729.1:p.Ser212del
NP_277042.1:p.Ser213del
NP_277043.1:p.Ser211del
LRG_1074t1:c.635_637del
LRG_1074t2:c.638_640del
LRG_1074:g.53367_53369del
LRG_1074p1:p.Ser212del
LRG_1074p2:p.Ser213del
NC_000007.13:g.44189403_44189405del
NM_000162.3:c.635_637delCCT

Protein change:

S211del

Links:

dbSNP: rs193922314

NCBI 1000 Genomes Browser:

rs193922314

Molecular consequence:

NM_000162.5:c.635_637del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354800.1:c.635_637del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033507.3:c.638_640del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033508.3:c.632_634del - inframe_deletion - [Sequence Ontology: SO:0001822]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000052555	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

SCV000052555

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	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	curation

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052555.2

#	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
3	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
3	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 3

Co-occurrences

#	Zygosity	Alleles	Number of Observations
2	SingleHeterozygote	HNF4A:c.116-5C>T, TCF1:c.864G>C, TCF1:c.1545G>A, TCF1:c.1720A>G	1
3	SingleHeterozygote	GCK:c.1253+8C>T, HNF4A:c.116-5C>T, TCF1:c.1545G>A, TCF1:c.864G>C, TCF1:c.1720A>G	1

Last Updated: Sep 29, 2024

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