NM_001109809.5(ZFP57):c.1383del (p.Tyr462fs) AND Diabetes mellitus, transient neonatal, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2008
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000000753.4

Allele description [Variation Report for NM_001109809.5(ZFP57):c.1383del (p.Tyr462fs)]

NM_001109809.5(ZFP57):c.1383del (p.Tyr462fs)

Gene:

ZFP57:ZFP57 zinc finger protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p22.1

Genomic location:

Preferred name:

NM_001109809.5(ZFP57):c.1383del (p.Tyr462fs)

HGVS:

NC_000006.12:g.29672728del
NG_013045.1:g.9427del
NG_031873.1:g.20748del
NM_001109809.5:c.1383delMANE SELECT
NM_001366333.2:c.1167del
NP_001103279.2:p.Tyr462fs
NP_001353262.1:p.Tyr390fs
NC_000006.11:g.29640505del
NM_001109809.2:c.1383del

Note:

NCBI staff reviewed the sequence information reported in PubMed 18622393 Fig. 1 to determine the location of this allele on the current reference sequence.

Protein change:

Y390fs

Links:

OMIM: 612192.0003; dbSNP: rs606231122

NCBI 1000 Genomes Browser:

rs606231122

Molecular consequence:

NM_001109809.5:c.1383del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001366333.2:c.1167del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Diabetes mellitus, transient neonatal, 1 (TNDM1)
Synonyms:: Diabetes mellitus, transient neonatal; Chromosome 6-associated transient diabetes mellitus
Identifiers:: MONDO: MONDO:0011073; MedGen: C1832386; Orphanet: 99886; OMIM: 601410

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020903	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2008)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020903

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2008)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK.

Nat Genet. 2008 Aug;40(8):949-51. doi: 10.1038/ng.187. Epub 2008 Jul 11.

PubMed [citation]

PMID:: 18622393

Details of each submission

From OMIM, SCV000020903.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 6-month-old child with transient neonatal diabetes (TNDM1; 601410) from a consanguineous union, Mackay et al. (2008) identified homozygosity for a single-nucleotide deletion at nucleotide 1323 of the ZFP57 gene (1323delC). This resulted in a frameshift and termination codon 17 amino acids downstream (Gly441GlyfsTer17). The baby required insulin for the first 4 months. He was born small for gestational age and had clinodactyly, bilateral failure of flexion at interphalangeal joints of the fifth digit, possible epilepsy with roving eye movements, and suspected cerebral blindness. He had severe developmental delay and was developing cerebellar palsy. MRI showed partial agenesis of corpus callosum, dilatation of temporal horns, and hypoplasia of cerebellar vermis. He had micrognathia despite macroglossia.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

ClinVar

Relating variation to medicine