rs1495741

Variant names:

• chr8-18415371-G-A
• rs1495741

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.620

Gnomad4 AMR AF: 0.661

Gnomad4 ASJ AF: 0.832

Gnomad4 EAS AF: 0.460

Gnomad4 SAS AF: 0.773

Gnomad4 FIN AF: 0.746

Gnomad4 NFE AF: 0.774

Gnomad4 OTH AF: 0.729

Alfa AF: 0.756 Hom.: 100876

Bravo AF: 0.693

Asia WGS AF: 0.627 AC: 2180 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1495741; hg19: chr8-18272881;