NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 6, 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:: RCV002266006.3

Allele description [Variation Report for NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)]

NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)

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.3463G>A (p.Val1155Ile)

HGVS:

NC_000011.10:g.17404606C>T
NG_008867.1:g.77297G>A
NM_000352.6:c.3463G>AMANE SELECT
NM_001287174.3:c.3466G>A
NM_001351295.2:c.3529G>A
NM_001351296.2:c.3463G>A
NM_001351297.2:c.3460G>A
NP_000343.2:p.Val1155Ile
NP_001274103.1:p.Val1156Ile
NP_001338224.1:p.Val1177Ile
NP_001338225.1:p.Val1155Ile
NP_001338226.1:p.Val1154Ile
LRG_790t1:c.3463G>A
LRG_790t2:c.3466G>A
LRG_790:g.77297G>A
LRG_790p1:p.Val1155Ile
LRG_790p2:p.Val1156Ile
NC_000011.9:g.17426153C>T
NM_000352.4:c.3463G>A
NR_147094.2:n.3612G>A

Protein change:

V1154I

Links:

dbSNP: rs759961510

NCBI 1000 Genomes Browser:

rs759961510

Molecular consequence:

NM_000352.6:c.3463G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287174.3:c.3466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351295.2:c.3529G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351296.2:c.3463G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351297.2:c.3460G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_147094.2:n.3612G>A - 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
SCV002547984	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (May 6, 2022)	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

SCV002547984

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(May 6, 2022)

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

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS, Wang J, McIntyre AD, Iacocca MA, Robinson JF, Ban MR, Cao H, Hegele RA.

BMC Med Genomics. 2020 Feb 10;13(1):23. doi: 10.1186/s12920-020-0669-2.

PubMed [citation]

PMID:: 32041611
PMCID:: PMC7011550

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002547984.1

#	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.3463G>A (p.Val1155Ile) results in a conservative amino acid change located in the ABC transporter type 1, transmembrane domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251014 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3463G>A has been reported in the literature in at least one individual affected with metabolic disorders. 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. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and 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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