NM_005502.3(ABCA1):c.4760A>G (p.Lys1587Arg) AND Familial High Density Lipoprotein Deficiency

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000312801.1

Allele description

NM_005502.3(ABCA1):c.4760A>G (p.Lys1587Arg)

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_005502.3(ABCA1):c.4760A>G (p.Lys1587Arg)
HGVS:
  • NC_000009.12:g.104800523T>C
  • NG_007981.1:g.132633A>G
  • NM_005502.3:c.4760A>G
  • NP_005493.2:p.Lys1587Arg
  • NC_000009.11:g.107562804T>C
Protein change:
K1587R
Links:
dbSNP: rs2230808
GMAF:
0.4617(T), 2230808
NCBI 1000 Genomes Browser:
rs2230808
Molecular consequence:
  • NM_005502.3:c.4760A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial High Density Lipoprotein Deficiency
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000476231Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000476231.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 10, 2016