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NM_000162.5(GCK):c.989T>C (p.Phe330Ser) AND Maturity-onset diabetes of the young type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 18, 2017
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:
RCV000625570.2

Allele description [Variation Report for NM_000162.5(GCK):c.989T>C (p.Phe330Ser)]

NM_000162.5(GCK):c.989T>C (p.Phe330Ser)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.989T>C (p.Phe330Ser)
HGVS:
  • NC_000007.14:g.44146493A>G
  • NG_008847.2:g.56678T>C
  • NM_000162.5:c.989T>CMANE SELECT
  • NM_001354800.1:c.989T>C
  • NM_001354801.1:c.8+126T>C
  • NM_033507.3:c.992T>C
  • NM_033508.3:c.986T>C
  • NP_000153.1:p.Phe330Ser
  • NP_001341729.1:p.Phe330Ser
  • NP_277042.1:p.Phe331Ser
  • NP_277043.1:p.Phe329Ser
  • LRG_1074t1:c.989T>C
  • LRG_1074t2:c.992T>C
  • LRG_1074:g.56678T>C
  • LRG_1074p1:p.Phe330Ser
  • LRG_1074p2:p.Phe331Ser
  • NC_000007.13:g.44186092A>G
  • NM_000162.3:c.989T>C
Protein change:
F329S
Links:
dbSNP: rs1554334872
NCBI 1000 Genomes Browser:
rs1554334872
Molecular consequence:
  • NM_001354801.1:c.8+126T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000162.5:c.989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.992T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000746066Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Uncertain significance
(Sep 18, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000746066.1

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

Last Updated: Jul 29, 2023