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NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) AND Hyperinsulinemic hypoglycemia, familial, 2

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Apr 25, 2023
Review status:
no classifications from unflagged records
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:
RCV000193401.7

Allele description [Variation Report for NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)]

NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)

Gene:
KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)
HGVS:
  • NC_000011.10:g.17388013G>A
  • NG_012446.1:g.5647C>T
  • NM_000525.4:c.79C>TMANE SELECT
  • NM_001166290.2:c.-16-167C>T
  • NM_001377296.1:c.-17+5C>T
  • NM_001377297.1:c.-16-167C>T
  • NP_000516.3:p.Arg27Cys
  • NP_000516.3:p.Arg27Cys
  • NC_000011.9:g.17409560G>A
  • NC_000011.9:g.17409560G>A
  • NM_000525.3:c.79C>T
Protein change:
R27C
Links:
dbSNP: rs752507753
NCBI 1000 Genomes Browser:
rs752507753
Molecular consequence:
  • NM_001166290.2:c.-16-167C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377296.1:c.-17+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377297.1:c.-16-167C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000525.4:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]

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
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

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 Genetic Services Laboratory, University of Chicago, SCV000247653.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000247653Genetic Services Laboratory, University of Chicago
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 24, 2015) 		germlineclinical testing

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

Last Updated: Sep 29, 2024