NM_000162.5(GCK):c.605T>C (p.Met202Thr) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: May 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000711779.2

Allele description [Variation Report for NM_000162.5(GCK):c.605T>C (p.Met202Thr)]

NM_000162.5(GCK):c.605T>C (p.Met202Thr)

Gene:
GCK:glucokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000162.5(GCK):c.605T>C (p.Met202Thr)
HGVS:
  • NC_000007.14:g.44149834A>G
  • NG_008847.2:g.53337T>C
  • NM_000162.5:c.605T>CMANE SELECT
  • NM_001354800.1:c.605T>C
  • NM_033507.3:c.608T>C
  • NM_033508.3:c.602T>C
  • NP_000153.1:p.Met202Thr
  • NP_001341729.1:p.Met202Thr
  • NP_277042.1:p.Met203Thr
  • NP_277043.1:p.Met201Thr
  • LRG_1074t1:c.605T>C
  • LRG_1074t2:c.608T>C
  • LRG_1074:g.53337T>C
  • LRG_1074p1:p.Met202Thr
  • LRG_1074p2:p.Met203Thr
  • NC_000007.13:g.44189433A>G
  • NM_000162.3:c.605T>C
Protein change:
M201T
Links:
dbSNP: rs193922311
NCBI 1000 Genomes Browser:
rs193922311
Molecular consequence:
  • NM_000162.5:c.605T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354800.1:c.605T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033507.3:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033508.3:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000842175Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(May 9, 2019)
germlineclinical testing

PubMed (7)
[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

Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.

Yorifuji T, Higuchi S, Kawakita R, Hosokawa Y, Aoyama T, Murakami A, Kawae Y, Hatake K, Nagasaka H, Tamagawa N.

Pediatr Diabetes. 2018 Nov;19(7):1164-1172. doi: 10.1111/pedi.12714. Epub 2018 Jul 1.

PubMed [citation]
PMID:
29927023

Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4alpha, GCK and TCF1 in patients with MODY in Israel.

Stern E, Strihan C, Potievsky O, Nimri R, Shalitin S, Cohen O, Shehadeh N, Weintrob N, Phillip M, Gat-Yablonski G.

J Pediatr Endocrinol Metab. 2007 Aug;20(8):909-21.

PubMed [citation]
PMID:
17937063
See all PubMed Citations (7)

Details of each submission

From Athena Diagnostics Inc, SCV000842175.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The best available variant frequency is uninformative because it is below the disease allele frequency. Statistically enriched in patients compared to ethnically matched controls. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. One de novo case without parental identity confirmed.

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

Last Updated: Nov 27, 2021

Support Center