NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 21, 2018
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:: RCV001008916.10

Allele description [Variation Report for NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC]

NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC

HGVS:

NC_000007.14:g.44145273_44145282del
NG_008847.2:g.57892_57901del
LRG_1074:g.57892_57901del
NC_000007.13:g.44184872_44184881del
NM_000162.3:c.1255_1264delTTCAAGGAGC

Links:

dbSNP: rs2096270755

NCBI 1000 Genomes Browser:

rs2096270755

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001168722	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jun 21, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001168722

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jun 21, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001168722.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1255_1264del10 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). The c.1255_1264del10 variant causes a frameshift starting with codon Phenylalanine 419, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Phe419GlyfsX9. This variant is predicted to cause loss of normal protein function through protein truncation, as it replaces the final 47 amino acids with 8 incorrect amino acids. In summary, we consider this variant to be likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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