U.S. flag

An official website of the United States government

NM_000352.6(ABCC8):c.2116+2T>C AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 4, 2014
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:
RCV000169482.1

Allele description

NM_000352.6(ABCC8):c.2116+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.2116+2T>C
HGVS:
  • NC_000011.10:g.17427865A>G
  • NG_008867.1:g.54038T>C
  • NM_000352.6:c.2116+2T>CMANE SELECT
  • NM_001287174.3:c.2116+2T>C
  • NM_001351295.2:c.2182+2T>C
  • NM_001351296.2:c.2113+2T>C
  • NM_001351297.2:c.2113+2T>C
  • LRG_790t1:c.2116+2T>C
  • LRG_790t2:c.2116+2T>C
  • LRG_790:g.54038T>C
  • NC_000011.9:g.17449412A>G
  • NM_000352.3:c.2116+2T>C
Links:
dbSNP: rs786204676
NCBI 1000 Genomes Browser:
rs786204676
Molecular consequence:
  • NM_000352.6:c.2116+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001287174.3:c.2116+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351295.2:c.2182+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351296.2:c.2113+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351297.2:c.2113+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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000220933Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Dec 4, 2014) 		unknownliterature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

Bellanné-Chantelot C, Saint-Martin C, Ribeiro MJ, Vaury C, Verkarre V, Arnoux JB, Valayannopoulos V, Gobrecht S, Sempoux C, Rahier J, Fournet JC, Jaubert F, Aigrain Y, Nihoul-Fékété C, de Lonlay P.

J Med Genet. 2010 Nov;47(11):752-9. doi: 10.1136/jmg.2009.075416. Epub 2010 Aug 3.

PubMed [citation]
PMID:
20685672

Details of each submission

From Counsyl, SCV000220933.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 23, 2022