NM_000352.6(ABCC8):c.3151_3162+15del AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 29, 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:: RCV000669042.1

Allele description [Variation Report for NM_000352.6(ABCC8):c.3151_3162+15del]

NM_000352.6(ABCC8):c.3151_3162+15del

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.3151_3162+15del

HGVS:

NC_000011.10:g.17406874_17406900del
NG_008867.1:g.75004_75030del
NM_000352.6:c.3151_3162+15delMANE SELECT
NM_001287174.3:c.3154_3165+15del
NM_001351295.2:c.3217_3228+15del
NM_001351296.2:c.3151_3162+15del
NM_001351297.2:c.3148_3159+15del
LRG_790t1:c.3151_3162+15del
LRG_790t2:c.3154_3165+15del
LRG_790:g.75004_75030del
NC_000011.9:g.17428421_17428447del
NM_000352.3:c.3151_3162+15del27

Links:

dbSNP: rs1554912381

NCBI 1000 Genomes Browser:

rs1554912381

Molecular consequence:

NM_000352.6:c.3151_3162+15del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001287174.3:c.3154_3165+15del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001351295.2:c.3217_3228+15del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001351296.2:c.3151_3162+15del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001351297.2:c.3148_3159+15del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000793741	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Aug 29, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793741

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Aug 29, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000793741.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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