NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs) AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 2, 2022
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:: RCV002310486.2

Allele description [Variation Report for NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs)]

NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs)

HGVS:

NC_000011.10:g.17461633_17461634insTGGGTTTC
NG_008867.1:g.20269_20270insGAAACCCA
NM_000352.6:c.771_772insGAAACCCAMANE SELECT
NM_001287174.3:c.771_772insGAAACCCA
NM_001351295.2:c.771_772insGAAACCCA
NM_001351296.2:c.771_772insGAAACCCA
NM_001351297.2:c.771_772insGAAACCCA
NP_000343.2:p.Arg258fs
NP_001274103.1:p.Arg258fs
NP_001338224.1:p.Arg258fs
NP_001338225.1:p.Arg258fs
NP_001338226.1:p.Arg258fs
LRG_790t1:c.771_772insGAAACCCA
LRG_790t2:c.771_772insGAAACCCA
LRG_790:g.20269_20270insGAAACCCA
LRG_790p1:p.Arg258fs
LRG_790p2:p.Arg258fs
NC_000011.9:g.17483180_17483181insTGGGTTTC
NR_147094.2:n.840_841insGAAACCCA

Protein change:

R258fs

Molecular consequence:

NM_000352.6:c.771_772insGAAACCCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001287174.3:c.771_772insGAAACCCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351295.2:c.771_772insGAAACCCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351296.2:c.771_772insGAAACCCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351297.2:c.771_772insGAAACCCA - frameshift variant - [Sequence Ontology: SO:0001589]
NR_147094.2:n.840_841insGAAACCCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002602472	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Jan 2, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002602472

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Jan 2, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002602472.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

NM_000352.3(ABCC8):c.771_772ins8(R258Efs*104) is expected to be pathogenic in the context of familial hyperinsulinism, ABCC8-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ABCC8, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022

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