NM_000352.4(ABCC8):c.4451G>A (p.Gly1484Glu) AND Persistent hyperinsulinemic hypoglycemia of infancy

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000029267.1

Allele description [Variation Report for NM_000352.4(ABCC8):c.4451G>A (p.Gly1484Glu)]

NM_000352.4(ABCC8):c.4451G>A (p.Gly1484Glu)

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_000352.4(ABCC8):c.4451G>A (p.Gly1484Glu)
HGVS:
  • NC_000011.10:g.17394360C>T
  • NG_008867.1:g.87543G>A
  • NM_000352.4:c.4451G>A
  • NM_001287174.1:c.4454G>A
  • NP_000343.2:p.Gly1484Glu
  • NP_001274103.1:p.Gly1485Glu
  • NC_000011.9:g.17415907C>T
  • NM_000352.3:c.4451G>A
Protein change:
G1484E
Links:
dbSNP: 193922405
NCBI 1000 Genomes Browser:
rs193922405
Molecular consequence:
  • NM_000352.4:c.4451G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Persistent hyperinsulinemic hypoglycemia of infancy (HHF1)
Synonyms:
HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA; HYPERINSULINISM, CONGENITAL; HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS; See all synonyms [MedGen]
Identifiers:
MedGen: C1257959; Orphanet: 276575; Orphanet: 276598; OMIM: 256450

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000051913Laboratory Corporation of Americacriteria provided, single submitter
likely pathogenic
(Aug 18, 2011)
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.

Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S.

Clin Genet. 2011 Jun;79(6):582-7. doi: 10.1111/j.1399-0004.2010.01476.x.

PubMed [citation]
PMID:
20573158
PMCID:
PMC3375476

Details of each submission

From Laboratory Corporation of America, SCV000051913.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)

Description

"Diffuse CH (dominant inheritance); de novo mutation; not found in normals (see pbGP)"

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2017