NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs) 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:: RCV000029828.2

Allele description [Variation Report for NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs)]

NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs)

HGVS:

NC_000007.14:g.44146478_44146479insTT
NG_008847.2:g.56692_56693insAA
NM_000162.5:c.1003_1004insAAMANE SELECT
NM_001354800.1:c.1003_1004insAA
NM_001354801.1:c.8+140_8+141insAA
NM_033507.3:c.1006_1007insAA
NM_033508.3:c.1000_1001insAA
NP_000153.1:p.Val335fs
NP_001341729.1:p.Val335fs
NP_277042.1:p.Val336fs
NP_277043.1:p.Val334fs
LRG_1074t1:c.1003_1004insAA
LRG_1074t2:c.1006_1007insAA
LRG_1074:g.56692_56693insAA
LRG_1074p1:p.Val335fs
LRG_1074p2:p.Val336fs
NC_000007.13:g.44186077_44186078insTT
NM_000162.3:c.1003_1004insAA
p.Val335GlufsX19

Protein change:

V334fs

Links:

dbSNP: rs193922253

NCBI 1000 Genomes Browser:

rs193922253

Molecular consequence:

NM_000162.5:c.1003_1004insAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354800.1:c.1003_1004insAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033507.3:c.1006_1007insAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033508.3:c.1000_1001insAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354801.1:c.8+140_8+141insAA - 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

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Ichneumonidae sp. INDOBIOSYS-CCDB24682-E12 cytochrome oxidase subunit 1 (COI) ge...
Ichneumonidae sp. INDOBIOSYS-CCDB24682-E12 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|1557927233|gnl|uoguelph|INFCO725 OI-5P|gb|MH927144.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000052483	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

SCV000052483

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	2	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, SCV000052483.2

#	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	GCK:c.1253+8C>T, TCF1:c.1501+7G>A, TCF1:c.51C>G, TCF1:c.1720A>G, GCK:c.1253+8C>T, GCK:c.1002_1003delinsAA	1
3	SingleHeterozygote	TCF1:c.864G>C, TCF1:c.79A>C, TCF1:c.1501+7G>A, TCF1:c.51C>G, TCF1:c.1720A>G	1

Last Updated: Jul 29, 2023

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