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NM_000162.5(GCK):c.952G>T (p.Gly318Trp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 6, 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:
RCV002472939.3

Allele description [Variation Report for NM_000162.5(GCK):c.952G>T (p.Gly318Trp)]

NM_000162.5(GCK):c.952G>T (p.Gly318Trp)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.952G>T (p.Gly318Trp)
HGVS:
  • NC_000007.14:g.44146530C>A
  • NG_008847.2:g.56641G>T
  • NM_000162.5:c.952G>TMANE SELECT
  • NM_001354800.1:c.952G>T
  • NM_001354801.1:c.8+89G>T
  • NM_033507.3:c.955G>T
  • NM_033508.3:c.949G>T
  • NP_000153.1:p.Gly318Trp
  • NP_001341729.1:p.Gly318Trp
  • NP_277042.1:p.Gly319Trp
  • NP_277043.1:p.Gly317Trp
  • LRG_1074t1:c.952G>T
  • LRG_1074t2:c.955G>T
  • LRG_1074:g.56641G>T
  • LRG_1074p1:p.Gly318Trp
  • LRG_1074p2:p.Gly319Trp
  • NC_000007.13:g.44186129C>A
  • NM_000162.3:c.952G>T
Protein change:
G317W
Links:
dbSNP: rs193922340
NCBI 1000 Genomes Browser:
rs193922340
Molecular consequence:
  • NM_001354801.1:c.8+89G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000162.5:c.952G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.952G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.955G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.949G>T - 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
SCV002771541Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Likely pathogenic
(Jul 6, 2023) 		unknownclinical testing

PubMed (3)
[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

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC, Chakraborty C, Haneef SA, Nagasundaram N, Chen L, Zhu H.

Theranostics. 2014;4(4):366-85. doi: 10.7150/thno.7473.

PubMed [citation]
PMID:
24578721
PMCID:
PMC3936290

A comprehensive map of human glucokinase variant activity.

Gersing S, Cagiada M, Gebbia M, Gjesing AP, Coté AG, Seesankar G, Li R, Tabet D, Weile J, Stein A, Gloyn AL, Hansen T, Roth FP, Lindorff-Larsen K, Hartmann-Petersen R.

Genome Biol. 2023 Apr 26;24(1):97. doi: 10.1186/s13059-023-02935-8.

PubMed [citation]
PMID:
37101203
PMCID:
PMC10131484
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV002771541.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features of MODY. At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic, suggesting this variant may also cause disease. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 37101203)

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

Last Updated: May 7, 2024