NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs) AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 21, 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:: RCV000664896.2

Allele description [Variation Report for NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)]

NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)

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.4275_4291del (p.Asp1427fs)

HGVS:

NC_000011.10:g.17395628_17395644del
NG_008867.1:g.86261_86277del
NM_000352.6:c.4275_4291delMANE SELECT
NM_001287174.3:c.4278_4294del
NM_001351295.2:c.4341_4357del
NM_001351296.2:c.4275_4291del
NM_001351297.2:c.4272_4288del
NP_000343.2:p.Asp1427fs
NP_001274103.1:p.Asp1428fs
NP_001338224.1:p.Asp1449fs
NP_001338225.1:p.Asp1427fs
NP_001338226.1:p.Asp1426fs
LRG_790t1:c.4275_4291del
LRG_790t2:c.4278_4294del
LRG_790:g.86261_86277del
LRG_790p1:p.Asp1427fs
LRG_790p2:p.Asp1428fs
NC_000011.9:g.17417175_17417191del
NM_000352.3:c.4275_4291del
NM_000352.3:c.4275_4291del17
NR_147094.2:n.4570_4586del

Protein change:

D1426fs

Links:

dbSNP: rs1554904904

NCBI 1000 Genomes Browser:

rs1554904904

Molecular consequence:

NM_000352.6:c.4275_4291del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001287174.3:c.4278_4294del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351295.2:c.4341_4357del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351296.2:c.4275_4291del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351297.2:c.4272_4288del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_147094.2:n.4570_4586del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000788925	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Dec 21, 2016)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000788925

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Dec 21, 2016)

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, SCV000788925.1

#	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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