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NM_000162.5(GCK):c.454T>C (p.Phe152Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 12, 2019
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:
RCV001289439.2

Allele description [Variation Report for NM_000162.5(GCK):c.454T>C (p.Phe152Leu)]

NM_000162.5(GCK):c.454T>C (p.Phe152Leu)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.454T>C (p.Phe152Leu)
Other names:
NM_000162.5(GCK):c.454T>C; p.Phe152Leu
HGVS:
  • NC_000007.14:g.44150985A>G
  • NG_008847.2:g.52186T>C
  • NM_000162.5:c.454T>CMANE SELECT
  • NM_001354800.1:c.454T>C
  • NM_033507.3:c.457T>C
  • NM_033508.3:c.451T>C
  • NP_000153.1:p.Phe152Leu
  • NP_001341729.1:p.Phe152Leu
  • NP_277042.1:p.Phe153Leu
  • NP_277043.1:p.Phe151Leu
  • LRG_1074t1:c.454T>C
  • LRG_1074t2:c.457T>C
  • LRG_1074:g.52186T>C
  • LRG_1074p1:p.Phe152Leu
  • LRG_1074p2:p.Phe153Leu
  • NC_000007.13:g.44190584A>G
  • NM_000162.3:c.454T>C
Protein change:
F151L
Links:
dbSNP: rs2096280050
NCBI 1000 Genomes Browser:
rs2096280050
Molecular consequence:
  • NM_000162.5:c.454T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.454T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.457T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.451T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001477257Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Uncertain significance
(Nov 12, 2019) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

Vits L, Beckers D, Craen M, de Beaufort C, Vanfleteren E, Dahan K, Nollet A, Vanhaverbeke G, Imschoot SV, Bourguignon JP, Beauloye V, Storm K, Massa G, Giri M, Nobels F, De Schepper J, Rooman R, Van den Bruel A, Mathieu C, Wuyts W.

Clin Genet. 2006 Oct;70(4):355-9. No abstract available.

PubMed [citation]
PMID:
16965331

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV001477257.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024