U.S. flag

An official website of the United States government

NM_000162.5(GCK):c.167A>C (p.Lys56Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 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:
RCV003479431.1

Allele description [Variation Report for NM_000162.5(GCK):c.167A>C (p.Lys56Thr)]

NM_000162.5(GCK):c.167A>C (p.Lys56Thr)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
Other names:
NM_000162.5(GCK):c.167A>C; p.Lys56Thr
HGVS:
  • NC_000007.14:g.44153342T>G
  • NG_008847.2:g.49829A>C
  • NM_000162.5:c.167A>CMANE SELECT
  • NM_001354800.1:c.167A>C
  • NM_033507.3:c.170A>C
  • NM_033508.3:c.164A>C
  • NP_000153.1:p.Lys56Thr
  • NP_001341729.1:p.Lys56Thr
  • NP_277042.1:p.Lys57Thr
  • NP_277043.1:p.Lys55Thr
  • LRG_1074t1:c.167A>C
  • LRG_1074t2:c.170A>C
  • LRG_1074:g.49829A>C
  • LRG_1074p1:p.Lys56Thr
  • LRG_1074p2:p.Lys57Thr
  • NC_000007.13:g.44192941T>G
  • NM_000162.3:c.167A>C
Protein change:
K55T
Molecular consequence:
  • NM_000162.5:c.167A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.167A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.170A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.164A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004223348Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Nov 6, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry.

Breidbart E, Deng L, Lanzano P, Fan X, Guo J, Leibel RL, LeDuc CA, Chung WK.

J Pediatr Endocrinol Metab. 2021 Apr 13;34(5):633-638. doi: 10.1515/jpem-2020-0501. Print 2021 May 26.

PubMed [citation]
PMID:
33852230
PMCID:
PMC8970616

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004223348.1

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

Description

Variant summary: GCK c.167A>C (p.Lys56Thr) results in a non-conservative amino acid change located in the Hexokinase, N-terminal domain (IPR022672) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251398 control chromosomes. c.167A>C has been reported in the literature as co-segregating with disease in at-least one individual from a family affected with Maturity Onset Diabetes Of The Young 2 and reportedly meeting the criteria for GCK-MODY (example, Breidbart_2023). Additionally, this variant has also been observed in at-least two individuals from a family meeting criteria for GCK-MODY (personal correspondence, Clingen MODY panel). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 33852230). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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

Last Updated: Sep 29, 2024