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NM_000525.4(KCNJ11):c.1090del (p.Ala364fs) AND Hyperinsulinemic hypoglycemia, familial, 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 1, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004576141.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.1090del (p.Ala364fs)]

NM_000525.4(KCNJ11):c.1090del (p.Ala364fs)

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.1090del (p.Ala364fs)
HGVS:
  • NC_000011.10:g.17387002del
  • NG_012446.1:g.6658del
  • NG_122013.1:g.569del
  • NM_000525.4:c.1090delMANE SELECT
  • NM_001166290.2:c.829del
  • NM_001377296.1:c.829del
  • NM_001377297.1:c.829del
  • NP_000516.3:p.Ala364fs
  • NP_001159762.1:p.Ala277fs
  • NP_001364225.1:p.Ala277fs
  • NP_001364226.1:p.Ala277fs
  • NC_000011.9:g.17408549del
Protein change:
A277fs
Molecular consequence:
  • NM_000525.4:c.1090del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001166290.2:c.829del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377296.1:c.829del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377297.1:c.829del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hyperinsulinemic hypoglycemia, familial, 2
Synonyms:
HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL
Identifiers:
MONDO: MONDO:0011153; MedGen: C2931833; Orphanet: 276580; Orphanet: 276603; OMIM: 601820

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005051841Laboratory of Medical Genetics, National & Kapodistrian University of Athens
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 1, 2024) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedcuration

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV005051841.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024