chr7-24918662-C-T

Position:

• chr7-24918662-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.-149-26041G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.646 in 152,082 control chromosomes in the GnomAD database, including 32,984 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 0.65 (32984 hom., cov: 33)
• Consequence: OSBPL3 NM_015550.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0780

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=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.886 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
OSBPL3	NM_015550.4	c.-149-26041G>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.-149-26041G>A		intron_variant		1	NM_015550.4	ENSP00000315410	P3
OSBPL3	ENST00000415952.1	c.-149-26041G>A		intron_variant		4		ENSP00000411249

Frequencies

GnomAD3 genomes AF: 0.646 AC: 98142 AN: 151964 Hom.: 32944 Cov.: 33

Gnomad AFR AF: 0.809

Gnomad AMI AF: 0.700

Gnomad AMR AF: 0.636

Gnomad ASJ AF: 0.600

Gnomad EAS AF: 0.908

Gnomad SAS AF: 0.728

Gnomad FIN AF: 0.550

Gnomad MID AF: 0.566

Gnomad NFE AF: 0.541

Gnomad OTH AF: 0.600

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

GnomAD4 genome AF: 0.646 AC: 98240 AN: 152082 Hom.: 32984 Cov.: 33 AF XY: 0.649 AC XY: 48226 AN XY: 74336

Gnomad4 AFR AF: 0.809

Gnomad4 AMR AF: 0.636

Gnomad4 ASJ AF: 0.600

Gnomad4 EAS AF: 0.908

Gnomad4 SAS AF: 0.728

Gnomad4 FIN AF: 0.550

Gnomad4 NFE AF: 0.541

Gnomad4 OTH AF: 0.603

Alfa AF: 0.575 Hom.: 11722

Bravo AF: 0.654

Asia WGS AF: 0.820 AC: 2850 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.55
DANN	Benign	0.43

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: rs129; hg19: chr7-24958281;