NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro) AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 20, 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:: RCV002306230.1

Allele description [Variation Report for NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)]

NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)

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.4168G>C (p.Ala1390Pro)

Other names:

p.Ala1390Pro

HGVS:

NC_000011.10:g.17395882C>G
NG_008867.1:g.86021G>C
NM_000352.6:c.4168G>CMANE SELECT
NM_001287174.3:c.4171G>C
NM_001351295.2:c.4234G>C
NM_001351296.2:c.4168G>C
NM_001351297.2:c.4165G>C
NP_000343.2:p.Ala1390Pro
NP_001274103.1:p.Ala1391Pro
NP_001338224.1:p.Ala1412Pro
NP_001338225.1:p.Ala1390Pro
NP_001338226.1:p.Ala1389Pro
LRG_790t1:c.4168G>C
LRG_790t2:c.4171G>C
LRG_790:g.86021G>C
LRG_790p1:p.Ala1390Pro
LRG_790p2:p.Ala1391Pro
NC_000011.9:g.17417429C>G
NM_000352.3:c.4168G>C
NR_147094.2:n.4463G>C

Protein change:

A1389P

Molecular consequence:

NM_000352.6:c.4168G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001287174.3:c.4171G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351295.2:c.4234G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351296.2:c.4168G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351297.2:c.4165G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_147094.2:n.4463G>C - 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
SCV002600022	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 20, 2022)	de novo	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

SCV002600022

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 20, 2022)

de novo

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	de novo	yes	not provided	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 Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV002600022.1

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

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

Last Updated: Nov 19, 2022

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