NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 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:: RCV003165990.2

Allele description [Variation Report for NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile)]

NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile)

Gene:

ABCG8:ATP binding cassette subfamily G member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile)

HGVS:

NC_000002.12:g.43877649G>C
NG_008884.2:g.50708G>C
NM_001357321.2:c.1842G>C
NM_022437.2:c.1845G>C
NM_022437.3:c.1845G>CMANE SELECT
NP_001344250.1:p.Met614Ile
NP_071882.1:p.Met615Ile
LRG_1182t1:c.1845G>C
LRG_1182:g.50708G>C
LRG_1182p1:p.Met615Ile
NC_000002.11:g.44104788G>C
NG_008884.1:g.43686G>C
NM_022437.3:c.1845G>C

Protein change:

M614I

Links:

dbSNP: rs371711306

NCBI 1000 Genomes Browser:

rs371711306

Molecular consequence:

NM_001357321.2:c.1842G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022437.3:c.1845G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003912005	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 10, 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

SCV003912005

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 10, 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

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.

Lamiquiz-Moneo I, Baila-Rueda L, Bea AM, Mateo-Gallego R, Pérez-Calahorra S, Marco-Benedí V, Martín-Navarro A, Ros E, Cofán M, Rodríguez-Rey JC, Pocovi M, Cenarro A, Civeira F.

J Clin Lipidol. 2017 Nov - Dec;11(6):1432-1440.e4. doi: 10.1016/j.jacl.2017.09.005. Epub 2017 Oct 4.

PubMed [citation]

PMID:: 29066094

Details of each submission

From Ambry Genetics, SCV003912005.2

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

Description

The p.M615I variant (also known as c.1845G>C), located in coding exon 12 of the ABCG8 gene, results from a G to C substitution at nucleotide position 1845. The methionine at codon 615 is replaced by isoleucine, an amino acid with highly similar properties. This variant has been detected in a hypercholesterolemia cohort; however, details were limited (Lamiquiz-Moneo I et al. J Clin Lipidol, 2017 Oct;11:1432-1440.e4). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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