NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg) AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 10, 2018
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:: RCV000761254.2

Allele description [Variation Report for NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)]

NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)

Gene:

ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)

HGVS:

NC_000011.10:g.17448605C>T
NG_008867.1:g.33298G>A
NM_000352.6:c.1243G>AMANE SELECT
NM_001287174.3:c.1243G>A
NM_001351295.2:c.1243G>A
NM_001351296.2:c.1240G>A
NM_001351297.2:c.1240G>A
NP_000343.2:p.Gly415Arg
NP_001274103.1:p.Gly415Arg
NP_001338224.1:p.Gly415Arg
NP_001338225.1:p.Gly414Arg
NP_001338226.1:p.Gly414Arg
LRG_790t1:c.1243G>A
LRG_790t2:c.1243G>A
LRG_790:g.33298G>A
LRG_790p1:p.Gly415Arg
LRG_790p2:p.Gly415Arg
NC_000011.9:g.17470152C>T
NM_000352.3:c.1243G>A
NR_147094.2:n.1309G>A

Protein change:

G414R

Links:

dbSNP: rs1564955779

NCBI 1000 Genomes Browser:

rs1564955779

Molecular consequence:

NM_000352.6:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287174.3:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351295.2:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351296.2:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351297.2:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_147094.2:n.1309G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Hyperinsulinemic hypoglycemia, familial, 1 (HHF1)
Synonyms:: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS; HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY; NESIDIOBLASTOSIS OF PANCREAS; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009734; MedGen: C2931832; Orphanet: 276575; Orphanet: 276598; OMIM: 256450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000891211	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 10, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 22855730, 9618169, 23275527, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000891211

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 10, 2018)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel.

Calabria AC, Li C, Gallagher PR, Stanley CA, De León DD.

Diabetes. 2012 Oct;61(10):2585-91. Epub 2012 Aug 1.

PubMed [citation]

PMID:: 22855730
PMCID:: PMC3447900

Genetic heterogeneity in familial hyperinsulinism.

Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley CA, Thornton PS, Permutt MA.

Hum Mol Genet. 1998 Jul;7(7):1119-28. Erratum in: Hum Mol Genet 1998 Sep;7(9):1527.

PubMed [citation]

PMID:: 9618169

See all PubMed Citations (4)

Details of each submission

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000891211.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Sep 29, 2024

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