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NM_000352.6(ABCC8):c.2255+2T>C AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 29, 2016
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:
RCV000411947.2

Allele description [Variation Report for NM_000352.6(ABCC8):c.2255+2T>C]

NM_000352.6(ABCC8):c.2255+2T>C

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.2255+2T>C
HGVS:
  • NC_000011.10:g.17416928A>G
  • NG_008867.1:g.64975T>C
  • NM_000352.6:c.2255+2T>CMANE SELECT
  • NM_001287174.3:c.2258+2T>C
  • NM_001351295.2:c.2321+2T>C
  • NM_001351296.2:c.2255+2T>C
  • NM_001351297.2:c.2252+2T>C
  • LRG_790t1:c.2255+2T>C
  • LRG_790t2:c.2258+2T>C
  • LRG_790:g.64975T>C
  • NC_000011.9:g.17438475A>G
  • NM_000352.3:c.2255+2T>C
  • NM_000352.4:c.2255+2T>C
Links:
dbSNP: rs1057516589
NCBI 1000 Genomes Browser:
rs1057516589
Molecular consequence:
  • NM_000352.6:c.2255+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001287174.3:c.2258+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351295.2:c.2321+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351296.2:c.2255+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351297.2:c.2252+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485911Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Feb 29, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000485911.2

#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: Mar 16, 2025