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NM_005502.4(ABCA1):c.1680dup (p.Asp561Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 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:
RCV003700099.2

Allele description [Variation Report for NM_005502.4(ABCA1):c.1680dup (p.Asp561Ter)]

NM_005502.4(ABCA1):c.1680dup (p.Asp561Ter)

Gene:
ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q31.1
Genomic location:
Preferred name:
NM_005502.4(ABCA1):c.1680dup (p.Asp561Ter)
HGVS:
  • NC_000009.12:g.104831658dup
  • NG_007981.1:g.101499dup
  • NM_005502.4:c.1680dupMANE SELECT
  • NP_005493.2:p.Asp561Ter
  • LRG_542t1:c.1680dup
  • LRG_542:g.101499dup
  • LRG_542p1:p.Asp561Ter
  • NC_000009.11:g.107593937_107593938insA
  • NC_000009.11:g.107593939dup
Protein change:
D561*
Molecular consequence:
  • NM_005502.4:c.1680dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004463299Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 10, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway.

Lawn RM, Wade DP, Garvin MR, Wang X, Schwartz K, Porter JG, Seilhamer JJ, Vaughan AM, Oram JF.

J Clin Invest. 1999 Oct;104(8):R25-31.

PubMed [citation]
PMID:
10525055
PMCID:
PMC481052

High density lipoprotein deficiency and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1.

McNeish J, Aiello RJ, Guyot D, Turi T, Gabel C, Aldinger C, Hoppe KL, Roach ML, Royer LJ, de Wet J, Broccardo C, Chimini G, Francone OL.

Proc Natl Acad Sci U S A. 2000 Apr 11;97(8):4245-50.

PubMed [citation]
PMID:
10760292
PMCID:
PMC18215
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004463299.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ABCA1-related conditions. This sequence change creates a premature translational stop signal (p.Asp561*) in the ABCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA1 are known to be pathogenic (PMID: 10525055, 10760292, 20880529).

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

Last Updated: Sep 29, 2024