NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs) AND Permanent neonatal diabetes mellitus

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 22, 2020
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:: RCV001828735.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)]

NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)

Gene:

KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)

HGVS:

NC_000011.10:g.17387937_17387943del
NG_012446.1:g.5720_5726del
NM_000525.4:c.152_158delMANE SELECT
NM_001166290.2:c.-16-94_-16-88del
NM_001377296.1:c.-17+78_-17+84del
NM_001377297.1:c.-16-94_-16-88del
NP_000516.3:p.Glu51fs
NC_000011.9:g.17409481_17409487del
NC_000011.9:g.17409484_17409490del
NM_000525.3:c.152_158del

Protein change:

E51fs

Links:

dbSNP: rs1953591118

NCBI 1000 Genomes Browser:

rs1953591118

Molecular consequence:

NM_000525.4:c.152_158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001166290.2:c.-16-94_-16-88del - intron variant - [Sequence Ontology: SO:0001627]
NM_001377296.1:c.-17+78_-17+84del - intron variant - [Sequence Ontology: SO:0001627]
NM_001377297.1:c.-16-94_-16-88del - intron variant - [Sequence Ontology: SO:0001627]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002085181	Natera, Inc.	no assertion criteria provided	Likely pathogenic (Jul 22, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002085181

Natera, Inc.

no assertion criteria provided

Likely pathogenic
(Jul 22, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002085181.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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