13-78087104-T-G

Variant names:

• chr13-78087104-T-G
• rs2585498
• ENST00000607862.5:n.230+167186T>G

Variant summary

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

The ENST00000607862.5(OBI1-AS1):​n.230+167186T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.693 in 151,958 control chromosomes in the GnomAD database, including 37,654 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 0.69 (37654 hom., cov: 31)
• Consequence: OBI1-AS1 ENST00000607862.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.270
• Publications: 0 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=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.942 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

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OBI1-AS1	NR_047001.1		n.210+32040T>G		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OBI1-AS1	ENST00000607862.5	TSL:1	n.230+167186T>G		intron	N/A
	OBI1-AS1	ENST00000430549.6	TSL:4	n.68+32040T>G		intron	N/A
	OBI1-AS1	ENST00000444769.7	TSL:4	n.42+32040T>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.693 AC: 105217 AN: 151840 Hom.: 37645 Cov.: 31

Gnomad AFR AF: 0.507

Gnomad AMI AF: 0.684

Gnomad AMR AF: 0.780

Gnomad ASJ AF: 0.638

Gnomad EAS AF: 0.964

Gnomad SAS AF: 0.781

Gnomad FIN AF: 0.790

Gnomad MID AF: 0.737

Gnomad NFE AF: 0.747

Gnomad OTH AF: 0.697

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

GnomAD4 genome AF: 0.693 AC: 105258 AN: 151958 Hom.: 37654 Cov.: 31 AF XY: 0.699 AC XY: 51887 AN XY: 74258

African (AFR) AF: 0.507 AC: 20976 AN: 41412

American (AMR) AF: 0.780 AC: 11905 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.638 AC: 2210 AN: 3466

East Asian (EAS) AF: 0.964 AC: 4966 AN: 5150

South Asian (SAS) AF: 0.782 AC: 3767 AN: 4818

European-Finnish (FIN) AF: 0.790 AC: 8349 AN: 10570

Middle Eastern (MID) AF: 0.731 AC: 215 AN: 294

European-Non Finnish (NFE) AF: 0.747 AC: 50781 AN: 67964

Other (OTH) AF: 0.695 AC: 1467 AN: 2110

Alfa AF: 0.729 Hom.: 13970

Bravo AF: 0.683

Asia WGS AF: 0.842 AC: 2926 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.2
DANN	Benign	0.52
PhyloP100		-0.27

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs2585498;

hg19: chr13-78661239;