rs1526661

Variant names:

• chr8-76335880-G-A
• rs1526661

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 0.777 in 151,874 control chromosomes in the GnomAD database, including 46,719 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 0.78 (46719 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.600
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.936 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: 0.777 AC: 117861 AN: 151754 Hom.: 46667 Cov.: 31

Gnomad AFR AF: 0.944

Gnomad AMI AF: 0.693

Gnomad AMR AF: 0.741

Gnomad ASJ AF: 0.679

Gnomad EAS AF: 0.610

Gnomad SAS AF: 0.780

Gnomad FIN AF: 0.738

Gnomad MID AF: 0.759

Gnomad NFE AF: 0.708

Gnomad OTH AF: 0.774

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

GnomAD4 genome AF: 0.777 AC: 117971 AN: 151874 Hom.: 46719 Cov.: 31 AF XY: 0.773 AC XY: 57326 AN XY: 74180

African (AFR) AF: 0.944 AC: 39145 AN: 41480

American (AMR) AF: 0.741 AC: 11301 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.679 AC: 2352 AN: 3466

East Asian (EAS) AF: 0.610 AC: 3130 AN: 5130

South Asian (SAS) AF: 0.779 AC: 3740 AN: 4804

European-Finnish (FIN) AF: 0.738 AC: 7790 AN: 10560

Middle Eastern (MID) AF: 0.762 AC: 224 AN: 294

European-Non Finnish (NFE) AF: 0.708 AC: 48027 AN: 67860

Other (OTH) AF: 0.773 AC: 1630 AN: 2108

Alfa AF: 0.739 Hom.: 84499

Bravo AF: 0.786

Asia WGS AF: 0.722 AC: 2512 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.62
DANN	Benign	0.66
PhyloP100		-0.60

Splicing

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

Other links and lift over

dbSNP: rs1526661; hg19: chr8-77248115;