U.S. flag

An official website of the United States government

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003635061Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 16, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003635061.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024