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NM_000162.5(GCK):c.1278_1279del (p.Val427fs) AND Maturity-onset diabetes of the young type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 20, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001732836.3

Allele description [Variation Report for NM_000162.5(GCK):c.1278_1279del (p.Val427fs)]

NM_000162.5(GCK):c.1278_1279del (p.Val427fs)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1278_1279del (p.Val427fs)
Other names:
NM_000162.5(GCK):c.1278_1279del; p.Val427fs
HGVS:
  • NC_000007.14:g.44145256_44145257del
  • NG_008847.2:g.57915_57916del
  • NM_000162.5:c.1278_1279delMANE SELECT
  • NM_001354800.1:c.1278_1279del
  • NM_001354801.1:c.267_268del
  • NM_001354802.1:c.138_139del
  • NM_001354803.2:c.312_313del
  • NM_033507.3:c.1281_1282del
  • NM_033508.3:c.1275_1276del
  • NP_000153.1:p.Val427fs
  • NP_001341729.1:p.Val427fs
  • NP_001341730.1:p.Val90fs
  • NP_001341731.1:p.Val47fs
  • NP_001341732.1:p.Val105fs
  • NP_277042.1:p.Val428fs
  • NP_277043.1:p.Val426fs
  • LRG_1074t1:c.1278_1279del
  • LRG_1074t2:c.1281_1282del
  • LRG_1074:g.57915_57916del
  • LRG_1074p1:p.Val427fs
  • LRG_1074p2:p.Val428fs
  • NC_000007.13:g.44184855_44184856del
  • NM_000162.3:c.1278_1279del
Protein change:
V105fs
Links:
dbSNP: rs2128818859
NCBI 1000 Genomes Browser:
rs2128818859
Molecular consequence:
  • NM_000162.5:c.1278_1279del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354800.1:c.1278_1279del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354801.1:c.267_268del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354802.1:c.138_139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354803.2:c.312_313del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033507.3:c.1281_1282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033508.3:c.1275_1276del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001983778Institute of Human Genetics, Heidelberg University
no assertion criteria provided
Pathogenic
(Oct 20, 2021) 		maternalclinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, Heidelberg University, SCV001983778.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024