NM_016818.3:c.-26_-9dupGCCGCCGCCGCCGCCGCC
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_016818.3(ABCG1):c.-26_-9dupGCCGCCGCCGCCGCCGCC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00256 in 150,280 control chromosomes in the GnomAD database, including 4 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0026 ( 4 hom., cov: 26)
Exomes 𝑓: 0.000082 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
ABCG1
NM_016818.3 5_prime_UTR
NM_016818.3 5_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0270
Genes affected
ABCG1 (HGNC:73): (ATP binding cassette subfamily G member 1) The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
High Homozygotes in GnomAd4 at 4 AR gene
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00255 AC: 383AN: 150176Hom.: 4 Cov.: 26
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000816 AC: 108AN: 1323804Hom.: 0 Cov.: 20 AF XY: 0.0000826 AC XY: 54AN XY: 653828
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GnomAD4 genome AF: 0.00256 AC: 384AN: 150280Hom.: 4 Cov.: 26 AF XY: 0.00238 AC XY: 175AN XY: 73402
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at