NM_000352.6(ABCC8):c.863G>A (p.Trp288Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 15, 2021
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:: RCV001957902.4

Allele description [Variation Report for NM_000352.6(ABCC8):c.863G>A (p.Trp288Ter)]

NM_000352.6(ABCC8):c.863G>A (p.Trp288Ter)

Gene:

ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_000352.6(ABCC8):c.863G>A (p.Trp288Ter)

HGVS:

NC_000011.10:g.17460636C>T
NG_008867.1:g.21267G>A
NM_000352.6:c.863G>AMANE SELECT
NM_001287174.3:c.863G>A
NM_001351295.2:c.863G>A
NM_001351296.2:c.860G>A
NM_001351297.2:c.860G>A
NP_000343.2:p.Trp288Ter
NP_001274103.1:p.Trp288Ter
NP_001338224.1:p.Trp288Ter
NP_001338225.1:p.Trp287Ter
NP_001338226.1:p.Trp287Ter
LRG_790t1:c.863G>A
LRG_790t2:c.863G>A
LRG_790:g.21267G>A
LRG_790p1:p.Trp288Ter
LRG_790p2:p.Trp288Ter
NC_000011.9:g.17482183C>T
NR_147094.2:n.929G>A

Protein change:

W287*

Links:

dbSNP: rs2133675152

NCBI 1000 Genomes Browser:

rs2133675152

Molecular consequence:

NR_147094.2:n.929G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000352.6:c.863G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001287174.3:c.863G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001351295.2:c.863G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001351296.2:c.860G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001351297.2:c.860G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002213133	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 15, 2021)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 25008049, 25639667, 20685672, 23345197, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002213133

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 15, 2021)

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

Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.

Sang Y, Xu Z, Liu M, Yan J, Wu Y, Zhu C, Ni G.

Endocr J. 2014;61(9):901-10. Epub 2014 Jul 8.

PubMed [citation]

PMID:: 25008049

Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.

Gong C, Huang S, Su C, Qi Z, Liu F, Wu D, Cao B, Gu Y, Li W, Liang X, Liu M.

Pediatr Diabetes. 2016 May;17(3):227-34. doi: 10.1111/pedi.12254. Epub 2015 Feb 2.

PubMed [citation]

PMID:: 25639667

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002213133.3

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

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with hyperinsulinism (PMID: 25008049, 25639667). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp288*) 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).

#	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: Sep 29, 2024

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