rs2045298

Variant names:

• chr3-31757762-T-C
• rs2045298
• NM_017784.5:c.730-9642A>G

Variant summary

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

The NM_017784.5(OSBPL10):​c.730-9642A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.57 in 152,096 control chromosomes in the GnomAD database, including 28,995 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 0.57 (28995 hom., cov: 33)
• Consequence: OSBPL10 NM_017784.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.614

Genes affected

OSBPL10 (HGNC:16395): (oxysterol binding protein like 10) This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.822 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
OSBPL10	NM_017784.5	c.730-9642A>G		intron_variant	Intron 4 of 11	ENST00000396556.7	NP_060254.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
OSBPL10	ENST00000396556.7	c.730-9642A>G		intron_variant	Intron 4 of 11	1	NM_017784.5	ENSP00000379804.2

Frequencies

GnomAD3 genomes AF: 0.570 AC: 86681 AN: 151976 Hom.: 28988 Cov.: 33

Gnomad AFR AF: 0.191

Gnomad AMI AF: 0.613

Gnomad AMR AF: 0.695

Gnomad ASJ AF: 0.726

Gnomad EAS AF: 0.843

Gnomad SAS AF: 0.727

Gnomad FIN AF: 0.704

Gnomad MID AF: 0.653

Gnomad NFE AF: 0.711

Gnomad OTH AF: 0.600

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

GnomAD4 genome AF: 0.570 AC: 86694 AN: 152096 Hom.: 28995 Cov.: 33 AF XY: 0.577 AC XY: 42912 AN XY: 74366

Gnomad4 AFR AF: 0.191

Gnomad4 AMR AF: 0.695

Gnomad4 ASJ AF: 0.726

Gnomad4 EAS AF: 0.843

Gnomad4 SAS AF: 0.726

Gnomad4 FIN AF: 0.704

Gnomad4 NFE AF: 0.711

Gnomad4 OTH AF: 0.601

Alfa AF: 0.623 Hom.: 11537

Bravo AF: 0.551

Asia WGS AF: 0.724 AC: 2514 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.59
DANN	Benign	0.48

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: rs2045298; hg19: chr3-31799254;