NM_000162.5(GCK):c.971T>C (p.Leu324Pro) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 8, 2022
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:: RCV003482232.1

Allele description [Variation Report for NM_000162.5(GCK):c.971T>C (p.Leu324Pro)]

NM_000162.5(GCK):c.971T>C (p.Leu324Pro)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.971T>C (p.Leu324Pro)

HGVS:

NC_000007.14:g.44146511A>G
NG_008847.2:g.56660T>C
NM_000162.5:c.971T>CMANE SELECT
NM_001354800.1:c.971T>C
NM_001354801.1:c.8+108T>C
NM_033507.3:c.974T>C
NM_033508.3:c.968T>C
NP_000153.1:p.Leu324Pro
NP_001341729.1:p.Leu324Pro
NP_277042.1:p.Leu325Pro
NP_277043.1:p.Leu323Pro
LRG_1074t1:c.971T>C
LRG_1074t2:c.974T>C
LRG_1074:g.56660T>C
LRG_1074p1:p.Leu324Pro
LRG_1074p2:p.Leu325Pro
NC_000007.13:g.44186110A>G
NM_000162.3:c.971T>C

Protein change:

L323P

Links:

dbSNP: rs193922341

NCBI 1000 Genomes Browser:

rs193922341

Molecular consequence:

NM_001354801.1:c.8+108T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000162.5:c.971T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.971T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.974T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.968T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004229672	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Dec 8, 2022)	unknown	clinical testing	PubMed (11) [See all records that cite these PMIDs] 15305805, 20005544, 25555642, 27634015, 34746319, 24578721, 32741144, 36257325, 19790256, 28842611, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004229672

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Dec 8, 2022)

unknown

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

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	clinical testing

Citations

PubMed

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).

McKinney JL, Cao H, Robinson JF, Metzger DL, Cummings E, Riddell DC, Sanderson SR, Pacaud D, Ho J, Hegele RA.

Clin Invest Med. 2004 Jun;27(3):135-41.

PubMed [citation]

PMID:: 15305805

Effects of glucose and insulin on acyl ghrelin and desacyl ghrelin, leptin, and adiponectin in pregnant women with diabetes.

Gibson W, Liu J, Gaylinn B, Thorner MO, Meneilly GS, Babich SL, Thompson D, Chanoine JP.

Metabolism. 2010 Jun;59(6):841-7. doi: 10.1016/j.metabol.2009.09.033. Epub 2009 Dec 16.

PubMed [citation]

PMID:: 20005544
PMCID:: PMC2975459

See all PubMed Citations (11)

Details of each submission

From Athena Diagnostics Inc, SCV004229672.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

This variant has been identified in multiple unrelated individuals with clinical features of MODY. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Computational tools predict that this variant is damaging.

#	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: Feb 14, 2024

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