NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val) AND Hyperinsulinemic hypoglycemia, familial, 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 13, 2019
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:: RCV001375994.1

Allele description [Variation Report for NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val)]

NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val)

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.83C>T (p.Ala28Val)

HGVS:

NC_000011.10:g.17388009G>A
NG_012446.1:g.5651C>T
NM_000525.4:c.83C>TMANE SELECT
NM_001166290.2:c.-16-163C>T
NM_001377296.1:c.-17+9C>T
NM_001377297.1:c.-16-163C>T
NP_000516.3:p.Ala28Val
NC_000011.9:g.17409556G>A
NM_000525.3:c.83C>T

Protein change:

A28V

Links:

dbSNP: rs754683593

NCBI 1000 Genomes Browser:

rs754683593

Molecular consequence:

NM_001166290.2:c.-16-163C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001377296.1:c.-17+9C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001377297.1:c.-16-163C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000525.4:c.83C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001572996	Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 13, 2019)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001572996

Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 13, 2019)

maternal

clinical testing

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	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS, SCV001572996.1

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

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

Last Updated: Dec 24, 2023

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