NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 6, 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:: RCV003387795.1

Allele description [Variation Report for NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)]

NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)

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.1532T>C (p.Leu511Pro)

Other names:

NM_000352.6(ABCC8):c.1532T>C; p.Leu511Pro

HGVS:

NC_000011.10:g.17442818A>G
NG_008867.1:g.39085T>C
NM_000352.4:c.1532T>C
NM_000352.6:c.1532T>CMANE SELECT
NM_001287174.3:c.1532T>C
NM_001351295.2:c.1532T>C
NM_001351296.2:c.1529T>C
NM_001351297.2:c.1529T>C
NP_000343.2:p.Leu511Pro
NP_001274103.1:p.Leu511Pro
NP_001338224.1:p.Leu511Pro
NP_001338225.1:p.Leu510Pro
NP_001338226.1:p.Leu510Pro
LRG_790t1:c.1532T>C
LRG_790t2:c.1532T>C
LRG_790:g.39085T>C
LRG_790p1:p.Leu511Pro
LRG_790p2:p.Leu511Pro
NC_000011.9:g.17464365A>G
NM_000352.3:c.1532T>C
NR_147094.2:n.1598T>C

Protein change:

L510P

Links:

dbSNP: rs797045206

NCBI 1000 Genomes Browser:

rs797045206

Molecular consequence:

NM_000352.6:c.1532T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001287174.3:c.1532T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351295.2:c.1532T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351296.2:c.1529T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351297.2:c.1529T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_147094.2:n.1598T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004099545	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 6, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004099545

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 6, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Functional and Metabolomic Consequences of K(ATP) Channel Inactivation in Human Islets.

Li C, Ackermann AM, Boodhansingh KE, Bhatti TR, Liu C, Schug J, Doliba N, Han B, Cosgrove KE, Banerjee I, Matschinsky FM, Nissim I, Kaestner KH, Naji A, Adzick NS, Dunne MJ, Stanley CA, De León DD.

Diabetes. 2017 Jul;66(7):1901-1913. doi: 10.2337/db17-0029. Epub 2017 Apr 25.

PubMed [citation]

PMID:: 28442472
PMCID:: PMC5482088

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004099545.1

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

Description

Variant summary: ABCC8 c.1532T>C (p.Leu511Pro) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 31388 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1532T>C has been reported in the literature in individuals affected with Familial Hyperinsulinism (Li_2017). This report does not provide unequivocal conclusions about association of the variant with Familial Hyperinsulinism. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 28442472). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024

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