NM_000352.6(ABCC8):c.1879del (p.His627fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 22, 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:: RCV001067502.10

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001232568	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 22, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 20685672, 23345197, 25584046, 30386300, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001232568

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 22, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 (5)

Details of each submission

From Invitae, SCV001232568.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.His627Metfs*20) 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 premature translational stop signal has been observed in individual(s) with congenital hyperinsulinism (PMID: 25584046, 30386300). ClinVar contains an entry for this variant (Variation ID: 370909). 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.

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

Last Updated: May 12, 2024

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