NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 8, 2020
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:: RCV001388603.8

Allele description [Variation Report for NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)]

NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)

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.3108G>A (p.Trp1036Ter)

HGVS:

NC_000011.10:g.17406942C>T
NG_008867.1:g.74961G>A
NM_000352.6:c.3108G>AMANE SELECT
NM_001287174.3:c.3111G>A
NM_001351295.2:c.3174G>A
NM_001351296.2:c.3108G>A
NM_001351297.2:c.3105G>A
NP_000343.2:p.Trp1036Ter
NP_001274103.1:p.Trp1037Ter
NP_001338224.1:p.Trp1058Ter
NP_001338225.1:p.Trp1036Ter
NP_001338226.1:p.Trp1035Ter
LRG_790t1:c.3108G>A
LRG_790t2:c.3111G>A
LRG_790:g.74961G>A
LRG_790p1:p.Trp1036Ter
LRG_790p2:p.Trp1037Ter
NC_000011.9:g.17428489C>T
NM_000352.3:c.3108G>A
NR_147094.2:n.3257G>A

Protein change:

W1035*

Links:

dbSNP: rs1057516585

NCBI 1000 Genomes Browser:

rs1057516585

Molecular consequence:

NR_147094.2:n.3257G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000352.6:c.3108G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001287174.3:c.3111G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001351295.2:c.3174G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001351296.2:c.3108G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001351297.2:c.3105G>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
SCV001589660	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 8, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23345197, 20685672, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001589660

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 8, 2020)

germline

clinical testing

PubMed (3)
[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

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

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

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001589660.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Trp1036*) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). This variant has been observed in individual(s) with familial hyperinsulinism (PMID: 20685672). It is also known as c.3111G>A, p.Trp1037X in the literature. ClinVar contains an entry for this variant (Variation ID: 370556). This variant is not present in population databases (ExAC no frequency).

#	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: Jul 5, 2025

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