NM_000162.5(GCK):c.645C>T (p.Tyr215=) AND Permanent neonatal diabetes mellitus

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000342725.2

Allele description [Variation Report for NM_000162.5(GCK):c.645C>T (p.Tyr215=)]

NM_000162.5(GCK):c.645C>T (p.Tyr215=)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.645C>T (p.Tyr215=)
HGVS:
  • NC_000007.14:g.44149794G>A
  • NG_008847.2:g.53377C>T
  • NM_000162.5:c.645C>TMANE SELECT
  • NM_001354800.1:c.645C>T
  • NM_033507.3:c.648C>T
  • NM_033508.3:c.642C>T
  • NP_000153.1:p.Tyr215=
  • NP_001341729.1:p.Tyr215=
  • NP_277042.1:p.Tyr216=
  • NP_277043.1:p.Tyr214=
  • LRG_1074t1:c.645C>T
  • LRG_1074t2:c.648C>T
  • LRG_1074:g.53377C>T
  • LRG_1074p1:p.Tyr215=
  • LRG_1074p2:p.Tyr216=
  • NC_000007.13:g.44189393G>A
  • NM_000162.3:c.645C>T
Links:
dbSNP: rs144723656
NCBI 1000 Genomes Browser:
rs144723656
Molecular consequence:
  • NM_000162.5:c.645C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354800.1:c.645C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033507.3:c.648C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033508.3:c.642C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Permanent neonatal diabetes mellitus (PNDM)
Synonyms:
Permanent diabetes mellitus of infancy
Identifiers:
MONDO: MONDO:0100164; MedGen: C1833104; OMIM: PS606176

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000469416Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000469416.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2021

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