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

Clinical significance:Uncertain significance (Last evaluated: Mar 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000501325.6

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_001354803.2: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_001354803.2: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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000594947Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Uncertain significance
(Mar 28, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

Help
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000594947.1

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

Last Updated: Jun 24, 2022