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NM_000162.5(GCK):c.449T>C (p.Phe150Ser) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 27, 2023
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:
RCV000432293.5

Allele description [Variation Report for NM_000162.5(GCK):c.449T>C (p.Phe150Ser)]

NM_000162.5(GCK):c.449T>C (p.Phe150Ser)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.449T>C (p.Phe150Ser)
Other names:
NM_000162.5(GCK):c.449T>C
HGVS:
  • NC_000007.14:g.44150990A>G
  • NG_008847.2:g.52181T>C
  • NM_000162.5:c.449T>CMANE SELECT
  • NM_001354800.1:c.449T>C
  • NM_033507.3:c.452T>C
  • NM_033508.3:c.446T>C
  • NP_000153.1:p.Phe150Ser
  • NP_001341729.1:p.Phe150Ser
  • NP_277042.1:p.Phe151Ser
  • NP_277043.1:p.Phe149Ser
  • LRG_1074t1:c.449T>C
  • LRG_1074t2:c.452T>C
  • LRG_1074:g.52181T>C
  • LRG_1074p1:p.Phe150Ser
  • LRG_1074p2:p.Phe151Ser
  • NC_000007.13:g.44190589A>G
  • NM_000162.3:c.449T>C
  • P35557:p.Phe150Ser
Protein change:
F149S
Links:
UniProtKB: P35557#VAR_010588; dbSNP: rs193922297
NCBI 1000 Genomes Browser:
rs193922297
Molecular consequence:
  • NM_000162.5:c.449T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.449T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.452T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.446T>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
SCV000516138GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 27, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000516138.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 30191644, 9662401, 14517946, 14517956, 18271687, 32533152, 32041611, 15305805)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024