NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Jan 9, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664839.1

Allele description [Variation Report for NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly)]

NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly)

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_000525.3(KCNJ11):c.1016T>G (p.Val339Gly)
HGVS:
  • NC_000011.10:g.17387076A>C
  • NG_012446.1:g.6584T>G
  • NM_000525.3:c.1016T>G
  • NM_001166290.2:c.755T>G
  • NP_000516.3:p.Val339Gly
  • NP_001159762.1:p.Val252Gly
  • NC_000011.9:g.17408623A>C
Protein change:
V252G
Links:
dbSNP: rs138125678
NCBI 1000 Genomes Browser:
rs138125678
Molecular consequence:
  • NM_000525.3:c.1016T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166290.2:c.755T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Permanent neonatal diabetes mellitus (PNDM)
Synonyms:
Permanent diabetes mellitus of infancy
Identifiers:
MONDO: MONDO:0100164; MedGen: C1833104; OMIM: PS606176
Name:
Transient neonatal diabetes mellitus 3 (TNDM3)
Identifiers:
MONDO: MONDO:0012522; MedGen: C1864623; Orphanet: 99886; OMIM: 610582
Name:
Hyperinsulinemic hypoglycemia, familial, 2 (HHF2)
Synonyms:
HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, FAMILIAL; HYPERINSULINISM, NEONATAL; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011153; MedGen: C2931833; Orphanet: 276580; Orphanet: 276603; OMIM: 601820

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788857Counsylcriteria provided, single submitter
Uncertain significance
(Jan 9, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A.

J Clin Endocrinol Metab. 2013 Feb;98(2):E355-63. doi: 10.1210/jc.2012-2169. Epub 2012 Dec 28.

PubMed [citation]
PMID:
23275527
PMCID:
PMC3565119

Details of each submission

From Counsyl, SCV000788857.1

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

Last Updated: Oct 7, 2021

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