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NM_000162.5(GCK):c.660C>A (p.Cys220Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 19, 2021
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:
RCV002488347.3

Allele description [Variation Report for NM_000162.5(GCK):c.660C>A (p.Cys220Ter)]

NM_000162.5(GCK):c.660C>A (p.Cys220Ter)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
Other names:
NM_000162.5(GCK):c.660C>A; p.Cys220Ter
HGVS:
  • NC_000007.14:g.44149779G>T
  • NG_008847.2:g.53392C>A
  • NM_000162.5:c.660C>AMANE SELECT
  • NM_001354800.1:c.660C>A
  • NM_033507.3:c.663C>A
  • NM_033508.3:c.657C>A
  • NP_000153.1:p.Cys220Ter
  • NP_001341729.1:p.Cys220Ter
  • NP_277042.1:p.Cys221Ter
  • NP_277043.1:p.Cys219Ter
  • LRG_1074t1:c.660C>A
  • LRG_1074t2:c.663C>A
  • LRG_1074:g.53392C>A
  • LRG_1074p1:p.Cys220Ter
  • LRG_1074p2:p.Cys221Ter
  • NC_000007.13:g.44189378G>T
  • NC_000007.13:g.44189378G>T
  • NM_000162.3:c.660C>A
Protein change:
C219*
Links:
dbSNP: rs142952813
NCBI 1000 Genomes Browser:
rs142952813
Molecular consequence:
  • NM_000162.5:c.660C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354800.1:c.660C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033507.3:c.663C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033508.3:c.657C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Type 2 diabetes mellitus
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:
MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
Name:
Hyperinsulinism due to glucokinase deficiency (HHF3)
Synonyms:
Hyperinsulinemic hypoglycemia familial 3
Identifiers:
MONDO: MONDO:0011236; MedGen: C1865290; OMIM: 602485
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
Name:
Permanent neonatal diabetes mellitus 1
Identifiers:
MONDO: MONDO:0100165; MedGen: C5393570; OMIM: 606176

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002801465Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 19, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002801465.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024