chr13-78331108-G-T

Variant names:

• chr13-78331108-G-T
• rs2248525
• ENST00000607862.5:n.315+56771G>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000607862.5(OBI1-AS1):​n.315+56771G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.644 in 152,016 control chromosomes in the GnomAD database, including 31,825 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 0.64 (31825 hom., cov: 33)
• Consequence: OBI1-AS1 ENST00000607862.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0760
• Publications: 1 publications found

Genes affected

OBI1-AS1 (HGNC:42700): (OBI1 antisense RNA 1)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.702 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000607862.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OBI1-AS1	NR_047001.1		n.384+56771G>T		intron	N/A

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OBI1-AS1	ENST00000607862.5	TSL:1	n.315+56771G>T		intron	N/A
	OBI1-AS1	ENST00000430549.6	TSL:4	n.242+56771G>T		intron	N/A
	OBI1-AS1	ENST00000444769.7	TSL:4	n.216+56771G>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.643 AC: 97731 AN: 151898 Hom.: 31783 Cov.: 33

Gnomad AFR AF: 0.708

Gnomad AMI AF: 0.535

Gnomad AMR AF: 0.675

Gnomad ASJ AF: 0.600

Gnomad EAS AF: 0.683

Gnomad SAS AF: 0.489

Gnomad FIN AF: 0.713

Gnomad MID AF: 0.472

Gnomad NFE AF: 0.599

Gnomad OTH AF: 0.635

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

GnomAD4 genome AF: 0.644 AC: 97824 AN: 152016 Hom.: 31825 Cov.: 33 AF XY: 0.645 AC XY: 47936 AN XY: 74298

African (AFR) AF: 0.709 AC: 29410 AN: 41494

American (AMR) AF: 0.675 AC: 10296 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.600 AC: 2079 AN: 3464

East Asian (EAS) AF: 0.684 AC: 3530 AN: 5162

South Asian (SAS) AF: 0.488 AC: 2351 AN: 4818

European-Finnish (FIN) AF: 0.713 AC: 7556 AN: 10598

Middle Eastern (MID) AF: 0.456 AC: 134 AN: 294

European-Non Finnish (NFE) AF: 0.599 AC: 40654 AN: 67912

Other (OTH) AF: 0.630 AC: 1326 AN: 2106

Alfa AF: 0.588 Hom.: 12111

Bravo AF: 0.647

Asia WGS AF: 0.590 AC: 2048 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.99
DANN	Benign	0.22
PhyloP100		0.076

Splicing

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

Other links and lift over

dbSNP: rs2248525; hg19: chr13-78905243;