NM_000352.6(ABCC8):c.1879del (p.His627fs) AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 29, 2015
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:: RCV000409962.10

Allele description [Variation Report for NM_000352.6(ABCC8):c.1879del (p.His627fs)]

NM_000352.6(ABCC8):c.1879del (p.His627fs)

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.1879del (p.His627fs)

HGVS:

NC_000011.10:g.17428614del
NG_008867.1:g.53294del
NM_000352.6:c.1879delMANE SELECT
NM_001287174.3:c.1879del
NM_001351295.2:c.1879del
NM_001351296.2:c.1876del
NM_001351297.2:c.1876del
NP_000343.2:p.His627fs
NP_001274103.1:p.His627fs
NP_001338224.1:p.His627fs
NP_001338225.1:p.His626fs
NP_001338226.1:p.His626fs
LRG_790t1:c.1879del
LRG_790t2:c.1879del
LRG_790:g.53294del
LRG_790p1:p.His627fs
LRG_790p2:p.His627fs
NC_000011.9:g.17450156del
NC_000011.9:g.17450161del
NM_000352.3:c.1879delC
NM_000352.4:c.1879del
NR_147094.2:n.1945del

Protein change:

H626fs

Links:

dbSNP: rs764613146

NCBI 1000 Genomes Browser:

rs764613146

Molecular consequence:

NM_000352.6:c.1879del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001287174.3:c.1879del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351295.2:c.1879del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351296.2:c.1876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351297.2:c.1876del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_147094.2:n.1945del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000486339	Counsyl	no assertion criteria provided	Likely pathogenic (May 12, 2016)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23275527, 25584046, 24401662, 23345197
SCV000592995	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 29, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000486339

Counsyl

no assertion criteria provided

Likely pathogenic
(May 12, 2016)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV000592995

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 29, 2015)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A.

J Clin Endocrinol Metab. 2013 Feb;98(2):E355-63. doi: 10.1210/jc.2012-2169. Epub 2012 Dec 28.

PubMed [citation]

PMID:: 23275527
PMCID:: PMC3565119

Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy.

Arya VB, Aziz Q, Nessa A, Tinker A, Hussain K.

Int J Pediatr Endocrinol. 2014;2014(1):24. doi: 10.1186/1687-9856-2014-24. Epub 2014 Dec 15.

PubMed [citation]

PMID:: 25584046
PMCID:: PMC4290134

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000486339.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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

From Genetic Services Laboratory, University of Chicago, SCV000592995.1

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine