NM_005502.4(ABCA1):c.6034C>G (p.Leu2012Val) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 16, 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:: RCV004151805.1

Allele description [Variation Report for NM_005502.4(ABCA1):c.6034C>G (p.Leu2012Val)]

NM_005502.4(ABCA1):c.6034C>G (p.Leu2012Val)

Genes:

ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
NIPSNAP3B:nipsnap homolog 3B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.1

Genomic location:

Preferred name:

NM_005502.4(ABCA1):c.6034C>G (p.Leu2012Val)

HGVS:

NC_000009.12:g.104788461G>C
NG_007981.1:g.144695C>G
NM_005502.4:c.6034C>GMANE SELECT
NP_005493.2:p.Leu2012Val
LRG_542t1:c.6034C>G
LRG_542:g.144695C>G
LRG_542p1:p.Leu2012Val
NC_000009.11:g.107550742G>C
NM_005502.3:c.6034C>G

Protein change:

L2012V

Molecular consequence:

NM_005502.4:c.6034C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Rattus norvegicus transthyretin (Ttr), mRNA
Rattus norvegicus transthyretin (Ttr), mRNA
gi|333033762|ref|NM_012681.2|

Nucleotide
Gastric Bypass
Gastric Bypass
Surgical procedure in which the STOMACH is transected high on the body. The resulting small proximal gastric pouch is joined to any parts of the SMALL INTESTINE by an end-to-s...<br/>Year introduced: 1989

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003635061	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 16, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003635061

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 16, 2023)

germline

clinical testing

Citation Link

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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, SCV003635061.2

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

Description

The p.L2012V variant (also known as c.6034C>G), located in coding exon 44 of the ABCA1 gene, results from a C to G substitution at nucleotide position 6034. The leucine at codon 2012 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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: Nov 3, 2024

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