NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 13, 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:: RCV001859230.5

Allele description [Variation Report for NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)]

NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)

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.2521C>T (p.Arg841Ter)

Other names:

NM_000352.6(ABCC8):c.2521C>T; p.Arg841Ter

HGVS:

NC_000011.10:g.17412701G>A
NG_008867.1:g.69202C>T
NM_000352.6:c.2521C>TMANE SELECT
NM_001287174.3:c.2524C>T
NM_001351295.2:c.2587C>T
NM_001351296.2:c.2521C>T
NM_001351297.2:c.2518C>T
NP_000343.2:p.Arg841Ter
NP_001274103.1:p.Arg842Ter
NP_001338224.1:p.Arg863Ter
NP_001338225.1:p.Arg841Ter
NP_001338226.1:p.Arg840Ter
LRG_790t1:c.2521C>T
LRG_790t2:c.2524C>T
LRG_790:g.69202C>T
LRG_790p1:p.Arg841Ter
LRG_790p2:p.Arg842Ter
NC_000011.9:g.17434248G>A
NM_000352.4:c.2521C>T
NR_147094.2:n.2590C>T

Protein change:

R840*

Links:

dbSNP: rs1484689392

NCBI 1000 Genomes Browser:

rs1484689392

Molecular consequence:

NR_147094.2:n.2590C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000352.6:c.2521C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001287174.3:c.2524C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351295.2:c.2587C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351296.2:c.2521C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351297.2:c.2518C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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thyroid hormone receptor beta isoform a [Homo sapiens]
thyroid hormone receptor beta isoform a [Homo sapiens]
gi|1765945235|ref|NP_001361753.1|

Protein
lysine-specific demethylase PHF2 isoform X4 [Homo sapiens]
lysine-specific demethylase PHF2 isoform X4 [Homo sapiens]
gi|2462625011|ref|XP_054219088.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002229297	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 13, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18988933, 34927408, 20685672, 23345197, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002229297

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 13, 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

Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.

Brunetti-Pierri N, Olutoye OO, Heptulla R, Tatevian N.

Ann Clin Lab Sci. 2008 Autumn;38(4):386-9.

PubMed [citation]

PMID:: 18988933

Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism

Razzaghy-Azar M, Saeedi S, Dayani SB, Enayati S, Abbasi F, Hashemian S, Eshraghi P, Karimdadi S, Tajdini P, Vakili R, Amoli MM, Yaghootkar H.

J Clin Res Pediatr Endocrinol. 2022 Mar 3;14(1):87-95. doi: 10.4274/jcrpe.galenos.2021.2021.0071. Epub 2021 Dec 20.

PubMed [citation]

PMID:: 34927408
PMCID:: PMC8900073

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002229297.3

#	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. ClinVar contains an entry for this variant (Variation ID: 996301). This variant is also known as p.Arg842Ter . This premature translational stop signal has been observed in individual(s) with ABCC8-related conditions (PMID: 18988933, 34927408). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg841*) 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: Oct 26, 2024

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