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NM_000162.5(GCK):c.760A>C (p.Asn254His) AND Maturity-onset diabetes of the young type 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 18, 2011
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:
RCV000029917.2

Allele description [Variation Report for NM_000162.5(GCK):c.760A>C (p.Asn254His)]

NM_000162.5(GCK):c.760A>C (p.Asn254His)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.760A>C (p.Asn254His)
HGVS:
  • NC_000007.14:g.44147753T>G
  • NG_008847.2:g.55418A>C
  • NM_000162.5:c.760A>CMANE SELECT
  • NM_001354800.1:c.760A>C
  • NM_033507.3:c.763A>C
  • NM_033508.3:c.757A>C
  • NP_000153.1:p.Asn254His
  • NP_001341729.1:p.Asn254His
  • NP_277042.1:p.Asn255His
  • NP_277043.1:p.Asn253His
  • LRG_1074t1:c.760A>C
  • LRG_1074t2:c.763A>C
  • LRG_1074:g.55418A>C
  • LRG_1074p1:p.Asn254His
  • LRG_1074p2:p.Asn255His
  • NC_000007.13:g.44187352T>G
  • NM_000162.3:c.760A>C
Protein change:
N253H
Links:
dbSNP: rs193922327
NCBI 1000 Genomes Browser:
rs193922327
Molecular consequence:
  • NM_000162.5:c.760A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.760A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.757A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Maturity-onset diabetes of the young type 2
Synonyms:
MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000052572Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		likely pathogenic
(Aug 18, 2011) 		germlinecuration, clinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052572.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteGCK:c.1253+8C>T, TCF1:c.79A>C, TCF1:c.51C>G, TCF1:c.1720A>G, TCF1:c.1501+7G>A, TCF1:c.1460G>A, TCF1:c.1375C>T1

Last Updated: Sep 29, 2024