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NM_000352.6(ABCC8):c.1468-52G>A AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2023
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:
RCV003336606.2

Allele description [Variation Report for NM_000352.6(ABCC8):c.1468-52G>A]

NM_000352.6(ABCC8):c.1468-52G>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.1468-52G>A
HGVS:
  • NC_000011.10:g.17442934C>T
  • NG_008867.1:g.38969G>A
  • NM_000352.6:c.1468-52G>AMANE SELECT
  • NM_001287174.3:c.1468-52G>A
  • NM_001351295.2:c.1468-52G>A
  • NM_001351296.2:c.1465-52G>A
  • NM_001351297.2:c.1465-52G>A
  • LRG_790t1:c.1468-52G>A
  • LRG_790t2:c.1468-52G>A
  • LRG_790:g.38969G>A
  • NC_000011.9:g.17464481C>T
  • NM_000352.4:c.1468-52G>A
Molecular consequence:
  • NM_000352.6:c.1468-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001287174.3:c.1468-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351295.2:c.1468-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351296.2:c.1465-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351297.2:c.1465-52G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV004046638New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jan 6, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV004046638.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1468-52G>A intronic variant identified in intron 9 (of 38) of the ABCC8 gene has not been reported in affected individuals in theliterature. The variant is observed in 5 out of ~372,000 heterozygous alleles (no homozygotes) in population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze8), suggesting it is not a common benign variant in the populations represented in those databases. In silico predictions are in favor of the variant’s damaging effect[SPLICE AI delta score = 0.99, TraP score = 0.446 (>99th percentile for non-coding variants)]; however, functional studies to support or refute these predictions have not been reported. Given the lack of compelling evidence for its pathogenicity, the c.1468-52G>A intronic variant identified in the ABCC8 gene is reported as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024