chr7-24943836-C-T

Position:

• chr7-24943836-C-T

Variant summary

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

The NM_015550.4(OSBPL3):​c.-150+36050G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.284 in 151,968 control chromosomes in the GnomAD database, including 7,960 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 0.28 (7960 hom., cov: 32)
• Consequence: OSBPL3 NM_015550.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0560

Genes affected

OSBPL3 (HGNC:16370): (oxysterol binding protein like 3) This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.763 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
OSBPL3	NM_015550.4	c.-150+36050G>A		intron_variant		ENST00000313367.7	NP_056365.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
OSBPL3	ENST00000313367.7	c.-150+36050G>A		intron_variant		1	NM_015550.4	ENSP00000315410	P3
OSBPL3	ENST00000415952.1	c.-150+37563G>A		intron_variant		4		ENSP00000411249

Frequencies

GnomAD3 genomes AF: 0.283 AC: 43015 AN: 151848 Hom.: 7937 Cov.: 32

Gnomad AFR AF: 0.414

Gnomad AMI AF: 0.155

Gnomad AMR AF: 0.268

Gnomad ASJ AF: 0.205

Gnomad EAS AF: 0.783

Gnomad SAS AF: 0.588

Gnomad FIN AF: 0.180

Gnomad MID AF: 0.206

Gnomad NFE AF: 0.170

Gnomad OTH AF: 0.250

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

GnomAD4 genome AF: 0.284 AC: 43092 AN: 151968 Hom.: 7960 Cov.: 32 AF XY: 0.292 AC XY: 21691 AN XY: 74276

Gnomad4 AFR AF: 0.415

Gnomad4 AMR AF: 0.269

Gnomad4 ASJ AF: 0.205

Gnomad4 EAS AF: 0.783

Gnomad4 SAS AF: 0.589

Gnomad4 FIN AF: 0.180

Gnomad4 NFE AF: 0.170

Gnomad4 OTH AF: 0.251

Alfa AF: 0.190 Hom.: 4436

Bravo AF: 0.292

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	9.7
DANN	Benign	0.62

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: rs2710994; hg19: chr7-24983455;