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NM_000352.6(ABCC8):c.4119+1del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 16, 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:
RCV003708528.3

Allele description [Variation Report for NM_000352.6(ABCC8):c.4119+1del]

NM_000352.6(ABCC8):c.4119+1del

Gene:
ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000352.6(ABCC8):c.4119+1del
HGVS:
  • NC_000011.10:g.17396916del
  • NG_008867.1:g.84988del
  • NM_000352.6:c.4119+1delMANE SELECT
  • NM_001287174.3:c.4122+1del
  • NM_001351295.2:c.4185+1del
  • NM_001351296.2:c.4119+1del
  • NM_001351297.2:c.4116+1del
  • LRG_790t1:c.4119+1del
  • LRG_790t2:c.4122+1del
  • LRG_790:g.84988del
  • NC_000011.9:g.17418462del
  • NC_000011.9:g.17418463del
  • NM_000352.3:c.4119+1delG
Links:
dbSNP: rs1057517050
NCBI 1000 Genomes Browser:
rs1057517050
Molecular consequence:
  • NM_000352.6:c.4119+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001287174.3:c.4122+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351295.2:c.4185+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351296.2:c.4119+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351297.2:c.4116+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004486026Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 16, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

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

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K.

Eur J Endocrinol. 2013 Mar 15;168(4):557-64. doi: 10.1530/EJE-12-0673. Print 2013 Apr.

PubMed [citation]
PMID:
23345197
PMCID:
PMC3599069
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004486026.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

ClinVar contains an entry for this variant (Variation ID: 371155). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.4119+1del. This sequence change creates a premature translational stop signal (p.Ile1374Serfs*86) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCC8-related conditions.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2025