rs4468331

Positions:

• chr11-3144182-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_020896.4(OSBPL5):​c.-21-15013C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.814 in 152,122 control chromosomes in the GnomAD database, including 50,818 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.81 (50818 hom., cov: 32)
• Consequence: OSBPL5 NM_020896.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.999

Genes affected

OSBPL5 (HGNC:16392): (oxysterol binding protein like 5) This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.878 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
OSBPL5	NM_020896.4	c.-21-15013C>T		intron_variant		ENST00000263650.12	NP_065947.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
OSBPL5	ENST00000263650.12	c.-21-15013C>T		intron_variant		1	NM_020896.4	ENSP00000263650	P1

Frequencies

GnomAD3 genomes AF: 0.814 AC: 123732 AN: 152004 Hom.: 50791 Cov.: 32

Gnomad AFR AF: 0.886

Gnomad AMI AF: 0.907

Gnomad AMR AF: 0.761

Gnomad ASJ AF: 0.672

Gnomad EAS AF: 0.564

Gnomad SAS AF: 0.619

Gnomad FIN AF: 0.847

Gnomad MID AF: 0.690

Gnomad NFE AF: 0.817

Gnomad OTH AF: 0.784

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.814 AC: 123810 AN: 152122 Hom.: 50818 Cov.: 32 AF XY: 0.809 AC XY: 60154 AN XY: 74378

Gnomad4 AFR AF: 0.886

Gnomad4 AMR AF: 0.761

Gnomad4 ASJ AF: 0.672

Gnomad4 EAS AF: 0.564

Gnomad4 SAS AF: 0.619

Gnomad4 FIN AF: 0.847

Gnomad4 NFE AF: 0.817

Gnomad4 OTH AF: 0.777

Alfa AF: 0.805 Hom.: 25648

Bravo AF: 0.813

Asia WGS AF: 0.603 AC: 2098 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.3
DANN	Benign	0.72

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs4468331; hg19: chr11-3165412;