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NM_000162.5(GCK):c.645C>G (p.Tyr215Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 5, 2015
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:
RCV000421286.1

Allele description [Variation Report for NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)]

NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)
HGVS:
  • NC_000007.14:g.44149794G>C
  • NG_008847.2:g.53377C>G
  • NM_000162.5:c.645C>GMANE SELECT
  • NM_001354800.1:c.645C>G
  • NM_033507.3:c.648C>G
  • NM_033508.3:c.642C>G
  • NP_000153.1:p.Tyr215Ter
  • NP_001341729.1:p.Tyr215Ter
  • NP_277042.1:p.Tyr216Ter
  • NP_277043.1:p.Tyr214Ter
  • LRG_1074t1:c.645C>G
  • LRG_1074t2:c.648C>G
  • LRG_1074:g.53377C>G
  • LRG_1074p1:p.Tyr215Ter
  • LRG_1074p2:p.Tyr216Ter
  • NC_000007.13:g.44189393G>C
  • NM_000162.3:c.645C>G
  • p.Tyr215X
Protein change:
Y214*
Links:
dbSNP: rs144723656
NCBI 1000 Genomes Browser:
rs144723656
Molecular consequence:
  • NM_000162.5:c.645C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354800.1:c.645C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033507.3:c.648C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033508.3:c.642C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000515865GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 5, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000515865.4

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

Description

The Y215X nonsense variant in the GCK gene has been reported previously in association with MODY2(Sagen et al., 2008). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y215X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Y215X as a pathogenic variant.

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

Last Updated: Jul 29, 2023