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NM_000162.5(GCK):c.1190_1253+11dup AND Maturity onset diabetes mellitus in young

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2022
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:
RCV003330060.2

Allele description [Variation Report for NM_000162.5(GCK):c.1190_1253+11dup]

NM_000162.5(GCK):c.1190_1253+11dup

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1190_1253+11dup
HGVS:
  • NC_000007.14:g.44145489_44145563dup
  • NG_008847.2:g.57611_57685dup
  • NM_000162.5:c.1190_1253+11dupMANE SELECT
  • NM_001354800.1:c.1190_1253+11dup
  • NM_001354801.1:c.179_242+11dup
  • NM_001354802.1:c.50_113+11dup
  • NM_001354803.2:c.224_287+11dup
  • NM_033507.3:c.1193_1256+11dup
  • NM_033508.3:c.1187_1250+11dup
  • LRG_1074t1:c.1190_1253+11dup
  • LRG_1074t2:c.1193_1256+11dup
  • LRG_1074:g.57611_57685dup
  • NC_000007.13:g.44185088_44185162dup
Molecular consequence:
  • NM_000162.5:c.1190_1253+11dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354800.1:c.1190_1253+11dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354801.1:c.179_242+11dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354802.1:c.50_113+11dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354803.2:c.224_287+11dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033507.3:c.1193_1256+11dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033508.3:c.1187_1250+11dup - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
effect on RNA splicing function [Variation Ontology: 0397]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004037061Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 1, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital, SCV004037061.1

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

Description

minigene showed effet on RNA splicing: r.1253_1254ins75, p.Ser418Argfs*2. PS3 PM2 PP4

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

Last Updated: Jun 23, 2024