NM_000162.5(GCK):c.1288C>T (p.Leu430=) AND not provided

Clinical significance:Likely benign (Last evaluated: May 4, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000710138.1

Allele description [Variation Report for NM_000162.5(GCK):c.1288C>T (p.Leu430=)]

NM_000162.5(GCK):c.1288C>T (p.Leu430=)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.1288C>T (p.Leu430=)
HGVS:
  • NC_000007.14:g.44145246G>A
  • NG_008847.2:g.57925C>T
  • NM_000162.5:c.1288C>TMANE SELECT
  • NM_001354800.1:c.1288C>T
  • NM_001354801.1:c.277C>T
  • NM_001354802.1:c.148C>T
  • NM_001354803.1:c.322C>T
  • NM_033507.3:c.1291C>T
  • NM_033508.3:c.1285C>T
  • NP_000153.1:p.Leu430=
  • NP_001341729.1:p.Leu430=
  • NP_001341730.1:p.Leu93=
  • NP_001341731.1:p.Leu50=
  • NP_001341732.1:p.Leu108=
  • NP_277042.1:p.Leu431=
  • NP_277043.1:p.Leu429=
  • LRG_1074t1:c.1288C>T
  • LRG_1074t2:c.1291C>T
  • LRG_1074:g.57925C>T
  • LRG_1074p1:p.Leu430=
  • LRG_1074p2:p.Leu431=
  • NC_000007.13:g.44184845G>A
  • NM_000162.3:c.1288C>T
Links:
dbSNP: rs193922276
NCBI 1000 Genomes Browser:
rs193922276
Molecular consequence:
  • NM_000162.5:c.1288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354800.1:c.1288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354801.1:c.277C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354802.1:c.148C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354803.1:c.322C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033507.3:c.1291C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033508.3:c.1285C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000613411Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(May 4, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL.

Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Review.

PubMed [citation]
PMID:
19790256

Characteristics of maturity onset diabetes of the young in a large diabetes center.

Chambers C, Fouts A, Dong F, Colclough K, Wang Z, Batish SD, Jaremko M, Ellard S, Hattersley AT, Klingensmith G, Steck AK.

Pediatr Diabetes. 2016 Aug;17(5):360-7. doi: 10.1111/pedi.12289. Epub 2015 Jun 8.

PubMed [citation]
PMID:
26059258
PMCID:
PMC4934136
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000613411.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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