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NM_005502.4(ABCA1):c.3121C>G (p.Leu1041Val) AND Hypoalphalipoproteinemia, primary, 1

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 28, 2017
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:
RCV001169262.4

Allele description [Variation Report for NM_005502.4(ABCA1):c.3121C>G (p.Leu1041Val)]

NM_005502.4(ABCA1):c.3121C>G (p.Leu1041Val)

Gene:
ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.1
Genomic location:
Preferred name:
NM_005502.4(ABCA1):c.3121C>G (p.Leu1041Val)
HGVS:
  • NC_000009.12:g.104819706G>C
  • NG_007981.1:g.113450C>G
  • NM_005502.4:c.3121C>GMANE SELECT
  • NP_005493.2:p.Leu1041Val
  • LRG_542t1:c.3121C>G
  • LRG_542:g.113450C>G
  • LRG_542p1:p.Leu1041Val
  • NC_000009.11:g.107581987G>C
  • NM_005502.3:c.3121C>G
Protein change:
L1041V
Links:
dbSNP: rs192935024
NCBI 1000 Genomes Browser:
rs192935024
Molecular consequence:
  • NM_005502.4:c.3121C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypoalphalipoproteinemia, primary, 1
Identifiers:
MONDO: MONDO:0011393; MedGen: C5231558; Orphanet: 425; OMIM: 604091

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001331944Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Sep 28, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Sadananda SN, Foo JN, Toh MT, Cermakova L, Trigueros-Motos L, Chan T, Liany H, Collins JA, Gerami S, Singaraja RR, Hayden MR, Francis GA, Frohlich J, Khor CC, Brunham LR.

J Lipid Res. 2015 Oct;56(10):1993-2001. doi: 10.1194/jlr.P058891. Epub 2015 Aug 8.

PubMed [citation]
PMID:
26255038
PMCID:
PMC4583092

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001331944.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Dec 24, 2023