NM_005502.4(ABCA1):c.5987C>A (p.Ala1996Asp) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 20, 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:: RCV003188171.2

Allele description [Variation Report for NM_005502.4(ABCA1):c.5987C>A (p.Ala1996Asp)]

NM_005502.4(ABCA1):c.5987C>A (p.Ala1996Asp)

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.5987C>A (p.Ala1996Asp)

HGVS:

NC_000009.12:g.104788508G>T
NG_007981.1:g.144648C>A
NM_005502.4:c.5987C>AMANE SELECT
NP_005493.2:p.Ala1996Asp
LRG_542t1:c.5987C>A
LRG_542:g.144648C>A
LRG_542p1:p.Ala1996Asp
NC_000009.11:g.107550789G>T
NM_005502.3:c.5987C>A

Protein change:

A1996D

Molecular consequence:

NM_005502.4:c.5987C>A - 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
SCV003868959	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 20, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003868959

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 20, 2022)

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, SCV003868959.2

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

Description

The p.A1996D variant (also known as c.5987C>A), located in coding exon 44 of the ABCA1 gene, results from a C to A substitution at nucleotide position 5987. The alanine at codon 1996 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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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