NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys) AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 27, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000667913.2

Allele description [Variation Report for NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys)]

NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys)

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.536A>G (p.Tyr179Cys)

HGVS:

NC_000011.10:g.17463481T>C
NG_008867.1:g.18422A>G
NM_000352.6:c.536A>GMANE SELECT
NM_001287174.3:c.536A>G
NM_001351295.2:c.536A>G
NM_001351296.2:c.536A>G
NM_001351297.2:c.536A>G
NP_000343.2:p.Tyr179Cys
NP_001274103.1:p.Tyr179Cys
NP_001338224.1:p.Tyr179Cys
NP_001338225.1:p.Tyr179Cys
NP_001338226.1:p.Tyr179Cys
LRG_790t1:c.536A>G
LRG_790t2:c.536A>G
LRG_790:g.18422A>G
LRG_790p1:p.Tyr179Cys
LRG_790p2:p.Tyr179Cys
NC_000011.9:g.17485028T>C
NM_000352.3:c.536A>G
NR_147094.2:n.605A>G

Protein change:

Y179C

Links:

dbSNP: rs919281813

NCBI 1000 Genomes Browser:

rs919281813

Molecular consequence:

NM_000352.6:c.536A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001287174.3:c.536A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351295.2:c.536A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351296.2:c.536A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351297.2:c.536A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_147094.2:n.605A>G - 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
SCV000792438	Counsyl	no assertion criteria provided	Uncertain significance (Jun 27, 2017)	unknown	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

SCV000792438

Counsyl

no assertion criteria provided

Uncertain significance
(Jun 27, 2017)

unknown

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Details of each submission

From Counsyl, SCV000792438.2

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

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

#	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: Nov 2, 2025

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