rs1495741

Variant names:

• chr8-18415371-G-A
• rs1495741

Variant summary

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

The variant allele was found at a frequency of 0.708 in 152,126 control chromosomes in the GnomAD database, including 38,759 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 0.71 (38759 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.207
• Publications: 197 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.768 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.708 AC: 107697 AN: 152008 Hom.: 38756 Cov.: 32

Gnomad AFR AF: 0.621

Gnomad AMI AF: 0.717

Gnomad AMR AF: 0.661

Gnomad ASJ AF: 0.832

Gnomad EAS AF: 0.459

Gnomad SAS AF: 0.774

Gnomad FIN AF: 0.746

Gnomad MID AF: 0.788

Gnomad NFE AF: 0.774

Gnomad OTH AF: 0.731

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

GnomAD4 genome AF: 0.708 AC: 107743 AN: 152126 Hom.: 38759 Cov.: 32 AF XY: 0.705 AC XY: 52441 AN XY: 74360

African (AFR) AF: 0.620 AC: 25721 AN: 41482

American (AMR) AF: 0.661 AC: 10111 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.832 AC: 2885 AN: 3468

East Asian (EAS) AF: 0.460 AC: 2376 AN: 5168

South Asian (SAS) AF: 0.773 AC: 3723 AN: 4816

European-Finnish (FIN) AF: 0.746 AC: 7897 AN: 10592

Middle Eastern (MID) AF: 0.793 AC: 233 AN: 294

European-Non Finnish (NFE) AF: 0.774 AC: 52604 AN: 67986

Other (OTH) AF: 0.729 AC: 1539 AN: 2112

Alfa AF: 0.748 Hom.: 203349

Bravo AF: 0.693

Asia WGS AF: 0.627 AC: 2180 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.8
DANN	Benign	0.56
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs1495741; hg19: chr8-18272881;