NM_000162.5(GCK):c.333C>T (p.Pro111=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jul 19, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000194163.5

Allele description [Variation Report for NM_000162.5(GCK):c.333C>T (p.Pro111=)]

NM_000162.5(GCK):c.333C>T (p.Pro111=)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.333C>T (p.Pro111=)
HGVS:
  • NC_000007.14:g.44152301G>A
  • NG_008847.2:g.50870C>T
  • NM_000162.5:c.333C>TMANE SELECT
  • NM_001354800.1:c.333C>T
  • NM_033507.3:c.336C>T
  • NM_033508.3:c.330C>T
  • NP_000153.1:p.Pro111=
  • NP_001341729.1:p.Pro111=
  • NP_277042.1:p.Pro112=
  • NP_277043.1:p.Pro110=
  • LRG_1074t1:c.333C>T
  • LRG_1074t2:c.336C>T
  • LRG_1074:g.50870C>T
  • LRG_1074p1:p.Pro111=
  • LRG_1074p2:p.Pro112=
  • NC_000007.13:g.44191900G>A
  • NM_000162.3:c.333C>T
Links:
dbSNP: rs61736250
NCBI 1000 Genomes Browser:
rs61736250
Molecular consequence:
  • NM_000162.5:c.333C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354800.1:c.333C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033507.3:c.336C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033508.3:c.330C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000247465Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Likely benign
(May 21, 2015)
germlineclinical testing

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

SCV000302766PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

SCV000862529EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jul 19, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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, SCV000247465.1

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

From PreventionGenetics,PreventionGenetics, SCV000302766.1

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000862529.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 6, 2021

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