NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 16, 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:: RCV003405215.1

Allele description [Variation Report for NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)]

NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)

Other names:

p.Val1462GlyfsTer3

HGVS:

NC_000011.10:g.17395199_17395200dup
NG_008867.1:g.86703_86704dup
NM_000352.6:c.4383_4384dupMANE SELECT
NM_001287174.3:c.4386_4387dup
NM_001351295.2:c.4449_4450dup
NM_001351296.2:c.4383_4384dup
NM_001351297.2:c.4380_4381dup
NP_000343.2:p.Val1462fs
NP_001274103.1:p.Val1463fs
NP_001338224.1:p.Val1484fs
NP_001338225.1:p.Val1462fs
NP_001338226.1:p.Val1461fs
LRG_790t1:c.4383_4384dup
LRG_790t2:c.4386_4387dup
LRG_790:g.86703_86704dup
LRG_790p1:p.Val1462fs
LRG_790p2:p.Val1463fs
NC_000011.9:g.17416746_17416747dup
NR_147094.2:n.4678_4679dup

Protein change:

V1461fs

Molecular consequence:

NM_000352.6:c.4383_4384dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001287174.3:c.4386_4387dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351295.2:c.4449_4450dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351296.2:c.4383_4384dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351297.2:c.4380_4381dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_147094.2:n.4678_4679dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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

Name:: Leucine-induced hypoglycemia (LIH)
Synonyms:: Leucine-sensitive hypoglycemia of infancy; Familial infantile hypoglycemia precipitated by leucine
Identifiers:: MONDO: MONDO:0009415; MedGen: C0271714; OMIM: 240800

Name:: Diabetes mellitus, permanent neonatal 3
Identifiers:: MONDO: MONDO:0030088; MedGen: C5394303; OMIM: 618857

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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004123114	Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 16, 2023)	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

SCV004123114

Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 16, 2023)

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
Latin	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili, SCV004123114.1

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

Description

The variant in affected individuals is heterozygous. The affected individual is a newborn with impaired glucose metabolism, with clinical diagnosis of familial hyperinsulinism and or hypoglycemia. In summary, the variant meets our criteria to be classified as likely pathogenic.

#	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		1	not provided	not provided	not provided

Last Updated: Nov 25, 2023

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