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NM_000352.6(ABCC8):c.823-1G>A AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 18, 2017
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:
RCV000669420.1

Allele description [Variation Report for NM_000352.6(ABCC8):c.823-1G>A]

NM_000352.6(ABCC8):c.823-1G>A

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.823-1G>A
HGVS:
  • NC_000011.10:g.17460677C>T
  • NG_008867.1:g.21226G>A
  • NM_000352.6:c.823-1G>AMANE SELECT
  • NM_001287174.3:c.823-1G>A
  • NM_001351295.2:c.823-1G>A
  • NM_001351296.2:c.820-1G>A
  • NM_001351297.2:c.820-1G>A
  • LRG_790t1:c.823-1G>A
  • LRG_790t2:c.823-1G>A
  • LRG_790:g.21226G>A
  • NC_000011.9:g.17482224C>T
  • NM_000352.3:c.823-1G>A
Links:
dbSNP: rs1247430874
NCBI 1000 Genomes Browser:
rs1247430874
Molecular consequence:
  • NM_000352.6:c.823-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001287174.3:c.823-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001351295.2:c.823-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001351296.2:c.820-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001351297.2:c.820-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000794169Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Sep 18, 2017) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000794169.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024