NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs) AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 22, 2016
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:: RCV000411725.2

Allele description [Variation Report for NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)]

NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)

HGVS:

NC_000011.10:g.17427885_17427886del
NG_008867.1:g.54018_54019del
NM_000352.6:c.2098_2099delMANE SELECT
NM_001287174.3:c.2098_2099del
NM_001351295.2:c.2164_2165del
NM_001351296.2:c.2095_2096del
NM_001351297.2:c.2095_2096del
NP_000343.2:p.Thr700fs
NP_001274103.1:p.Thr700fs
NP_001338224.1:p.Thr722fs
NP_001338225.1:p.Thr699fs
NP_001338226.1:p.Thr699fs
LRG_790t1:c.2098_2099del
LRG_790t2:c.2098_2099del
LRG_790:g.54018_54019del
LRG_790p1:p.Thr700fs
LRG_790p2:p.Thr700fs
NC_000011.9:g.17449431_17449432del
NC_000011.9:g.17449432_17449433del
NM_000352.3:c.2098_2099delAC
NR_147094.2:n.2164_2165del

Protein change:

T699fs

Links:

dbSNP: rs1057516542

NCBI 1000 Genomes Browser:

rs1057516542

Molecular consequence:

NM_000352.6:c.2098_2099del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001287174.3:c.2098_2099del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351295.2:c.2164_2165del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351296.2:c.2095_2096del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351297.2:c.2095_2096del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_147094.2:n.2164_2165del - 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
SCV000485848	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Feb 22, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485848

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Feb 22, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

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 Counsyl, SCV000485848.2

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

#	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: Feb 28, 2024

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