NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 4, 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:: RCV002483905.3

Allele description [Variation Report for NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)]

NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)

Other names:

NM_000162.5(GCK):c.1024A>C; p.Thr342Pro

HGVS:

NC_000007.14:g.44145726T>G
NG_008847.2:g.57445A>C
NM_000162.5:c.1024A>CMANE SELECT
NM_001354800.1:c.1024A>C
NM_001354801.1:c.13A>C
NM_001354802.1:c.-117A>C
NM_001354803.2:c.58A>C
NM_033507.3:c.1027A>C
NM_033508.3:c.1021A>C
NP_000153.1:p.Thr342Pro
NP_001341729.1:p.Thr342Pro
NP_001341730.1:p.Thr5Pro
NP_001341732.1:p.Thr20Pro
NP_277042.1:p.Thr343Pro
NP_277043.1:p.Thr341Pro
LRG_1074t1:c.1024A>C
LRG_1074t2:c.1027A>C
LRG_1074:g.57445A>C
LRG_1074p1:p.Thr342Pro
LRG_1074p2:p.Thr343Pro
NC_000007.13:g.44185325T>G
NM_000162.3:c.1024A>C

Protein change:

T20P

Links:

dbSNP: rs1000236360

NCBI 1000 Genomes Browser:

rs1000236360

Molecular consequence:

NM_001354802.1:c.-117A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000162.5:c.1024A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354800.1:c.1024A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354801.1:c.13A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354803.2:c.58A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033507.3:c.1027A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033508.3:c.1021A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Type 2 diabetes mellitus
Synonyms:: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:: MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

Name:: Hyperinsulinism due to glucokinase deficiency (HHF3)
Synonyms:: Hyperinsulinemic hypoglycemia familial 3
Identifiers:: MONDO: MONDO:0011236; MedGen: C1865290; OMIM: 602485

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

Name:: Permanent neonatal diabetes mellitus 1
Identifiers:: MONDO: MONDO:0100165; MedGen: C5393570; OMIM: 606176

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RecName: Full=Cytochrome b-c1 complex subunit 7; AltName: Full=Complex III subun...
RecName: Full=Cytochrome b-c1 complex subunit 7; AltName: Full=Complex III subunit 7; AltName: Full=Complex III subunit VII; AltName: Full=QP-C; AltName: Full=Ubiquinol-cytochrome c reductase complex 14 kDa protein
gi|136717|sp|P14927.2|QCR7_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002786520	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 4, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002786520

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 4, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002786520.1

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

#	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: Jul 29, 2024

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