U.S. flag

An official website of the United States government

NM_000162.5(GCK):c.1020-33_1025del AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 9, 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:
RCV003152185.1

Allele description [Variation Report for NM_000162.5(GCK):c.1020-33_1025del]

NM_000162.5(GCK):c.1020-33_1025del

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1020-33_1025del
HGVS:
  • NC_000007.14:g.44145733_44145771del
  • NG_008847.2:g.57408_57446del
  • NM_000162.5:c.1020-33_1025delMANE SELECT
  • NM_001354800.1:c.1020-33_1025del
  • NM_001354801.1:c.9-33_14del
  • NM_001354802.1:c.-121-33_-116del
  • NM_001354803.2:c.54-33_59del
  • NM_033507.3:c.1023-33_1028del
  • NM_033508.3:c.1017-33_1022del
  • LRG_1074t1:c.1020-33_1025del
  • LRG_1074t2:c.1023-33_1028del
  • LRG_1074:g.57408_57446del
  • NC_000007.13:g.44185332_44185370del
Molecular consequence:
  • NM_000162.5:c.1020-33_1025del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354800.1:c.1020-33_1025del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354801.1:c.9-33_14del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354802.1:c.-121-33_-116del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354803.2:c.54-33_59del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_033507.3:c.1023-33_1028del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_033508.3:c.1017-33_1022del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003840636GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Sep 9, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV003840636.1

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

Description

Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Mar 18, 2023