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NM_000162.5(GCK):c.750C>G (p.Arg250=) AND Maturity onset diabetes mellitus in young

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 31, 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:
RCV004520628.1

Allele description [Variation Report for NM_000162.5(GCK):c.750C>G (p.Arg250=)]

NM_000162.5(GCK):c.750C>G (p.Arg250=)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.750C>G (p.Arg250=)
HGVS:
  • NC_000007.14:g.44147763G>C
  • NG_008847.2:g.55408C>G
  • NM_000162.5:c.750C>GMANE SELECT
  • NM_001354800.1:c.750C>G
  • NM_033507.3:c.753C>G
  • NM_033508.3:c.747C>G
  • NP_000153.1:p.Arg250=
  • NP_001341729.1:p.Arg250=
  • NP_277042.1:p.Arg251=
  • NP_277043.1:p.Arg249=
  • LRG_1074t1:c.750C>G
  • LRG_1074t2:c.753C>G
  • LRG_1074:g.55408C>G
  • LRG_1074p1:p.Arg250=
  • LRG_1074p2:p.Arg251=
  • NC_000007.13:g.44187362G>C
  • NM_000162.3:c.750C>G
Molecular consequence:
  • NM_000162.5:c.750C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354800.1:c.750C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033507.3:c.753C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033508.3:c.747C>G - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005032673Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 31, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005032673.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024