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NM_000162.5(GCK):c.679+1G>C AND Maturity-onset diabetes of the young type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 30, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003388272.1

Allele description [Variation Report for NM_000162.5(GCK):c.679+1G>C]

NM_000162.5(GCK):c.679+1G>C

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.679+1G>C
HGVS:
  • NC_000007.14:g.44149759C>G
  • NG_008847.2:g.53412G>C
  • NM_000162.5:c.679+1G>CMANE SELECT
  • NM_001354800.1:c.679+1G>C
  • NM_033507.3:c.682+1G>C
  • NM_033508.3:c.676+1G>C
  • LRG_1074t1:c.679+1G>C
  • LRG_1074t2:c.682+1G>C
  • LRG_1074:g.53412G>C
  • NC_000007.13:g.44189358C>G
Molecular consequence:
  • NM_000162.5:c.679+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354800.1:c.679+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033507.3:c.682+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033508.3:c.676+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV004099437Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
no assertion criteria provided
Pathogenic
(Oct 30, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004099437.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 4, 2023