NM_022437.3(ABCG8):c.1276C>G (p.Leu426Val) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 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:: RCV004037905.1

Allele description [Variation Report for NM_022437.3(ABCG8):c.1276C>G (p.Leu426Val)]

NM_022437.3(ABCG8):c.1276C>G (p.Leu426Val)

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.1276C>G (p.Leu426Val)

HGVS:

NC_000002.12:g.43873851C>G
NG_008884.2:g.46910C>G
NM_001357321.2:c.1273C>G
NM_022437.3:c.1276C>GMANE SELECT
NP_001344250.1:p.Leu425Val
NP_071882.1:p.Leu426Val
LRG_1182t1:c.1276C>G
LRG_1182:g.46910C>G
LRG_1182p1:p.Leu426Val
NC_000002.11:g.44100990C>G
NM_022437.2:c.1276C>G
p.Leu426Val

Protein change:

L425V

Links:

dbSNP: rs763933834

NCBI 1000 Genomes Browser:

rs763933834

Molecular consequence:

NM_001357321.2:c.1273C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022437.3:c.1276C>G - 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
SCV005028598	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005028598

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 20, 2023)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV005028598.1

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

Description

The p.L426V variant (also known as c.1276C>G), located in coding exon 9 of the ABCG8 gene, results from a C to G substitution at nucleotide position 1276. The leucine at codon 426 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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 7, 2024

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