NM_000162.5(GCK):c.1288C>T (p.Leu430=) AND Maturity-onset diabetes of the young, type 2

Clinical significance:Likely benign (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000029856.1

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]
Observations:
1

Condition(s)

Name:
Maturity-onset diabetes of the young, type 2 (MODY2)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052511Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
likely benign
(Aug 18, 2011)
germlinecuration, clinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052511.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteHNF4A:c.150G>A, HNF4A:c.116-5C>T, TCF1:c.79A>C, TCF1:c.51C>G, TCF1:c.1720A>G, TCF1:c.1501+7G>A, TCF1:c.1460G>A, TCF1:c.1375C>T1

Last Updated: Jun 14, 2021

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