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NM_000162.5(GCK):c.397T>C (p.Phe133Leu) AND Maturity onset diabetes mellitus in young

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 10, 2020
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:
RCV001391314.1

Allele description [Variation Report for NM_000162.5(GCK):c.397T>C (p.Phe133Leu)]

NM_000162.5(GCK):c.397T>C (p.Phe133Leu)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.397T>C (p.Phe133Leu)
HGVS:
  • NC_000007.14:g.44151042A>G
  • NG_008847.2:g.52129T>C
  • NM_000162.5:c.397T>CMANE SELECT
  • NM_001354800.1:c.397T>C
  • NM_033507.3:c.400T>C
  • NM_033508.3:c.394T>C
  • NP_000153.1:p.Phe133Leu
  • NP_001341729.1:p.Phe133Leu
  • NP_277042.1:p.Phe134Leu
  • NP_277043.1:p.Phe132Leu
  • LRG_1074t1:c.397T>C
  • LRG_1074t2:c.400T>C
  • GRCH37chr7:g.44190641A>G
  • LRG_1074:g.52129T>C
  • LRG_1074p1:p.Phe133Leu
  • LRG_1074p2:p.Phe134Leu
  • NC_000007.13:g.44190641A>G
  • NM_000162.3:c.397T>C
Protein change:
F132L
Links:
dbSNP: rs2128822093
NCBI 1000 Genomes Browser:
rs2128822093
Molecular consequence:
  • NM_000162.5:c.397T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.397T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.400T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.394T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Maturity onset diabetes mellitus in young (MODY)
Synonyms:
Mason type diabetes
Identifiers:
MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001593278Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 10, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT, Vasta V, Zhang M, Narayanan J, Gerrits P, Hahn SH.

Mol Genet Metab. 2015 Mar;114(3):451-8. doi: 10.1016/j.ymgme.2014.12.304. Epub 2014 Dec 20.

PubMed [citation]
PMID:
25555642
PMCID:
PMC7852340

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 Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV001593278.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (2)

Description

This variant substitutes the phenylalanine with leucine at amino acid position 133. This is an evolutionary conserved position and in silico tools predict this alteration is damaging to protein function (DANN, FATHMM-MKL, MutationAssessor, MutationTaster, PrimateAI, REVEL and SIFT). The p.Phe133Leu variant has previously been reported by our laboratory as a likely pathogenic change in an individual with MODY (PMID: 25555642). This variant has not been observed in the Genome Aggregation Database (v2.1.1).

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

Last Updated: Sep 29, 2024