rs8137602

Variant names:

• chr22-36878607-C-G
• rs8137602

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 0.0677 in 152,272 control chromosomes in the GnomAD database, including 381 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 0.068 (381 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.562
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0883 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: 0.0677 AC: 10303 AN: 152154 Hom.: 380 Cov.: 32

Gnomad AFR AF: 0.0461

Gnomad AMI AF: 0.143

Gnomad AMR AF: 0.0576

Gnomad ASJ AF: 0.0660

Gnomad EAS AF: 0.00173

Gnomad SAS AF: 0.0591

Gnomad FIN AF: 0.0484

Gnomad MID AF: 0.127

Gnomad NFE AF: 0.0902

Gnomad OTH AF: 0.0802

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

GnomAD4 genome AF: 0.0677 AC: 10309 AN: 152272 Hom.: 381 Cov.: 32 AF XY: 0.0648 AC XY: 4827 AN XY: 74462

African (AFR) AF: 0.0461 AC: 1915 AN: 41534

American (AMR) AF: 0.0575 AC: 880 AN: 15306

Ashkenazi Jewish (ASJ) AF: 0.0660 AC: 229 AN: 3472

East Asian (EAS) AF: 0.00173 AC: 9 AN: 5188

South Asian (SAS) AF: 0.0601 AC: 290 AN: 4822

European-Finnish (FIN) AF: 0.0484 AC: 514 AN: 10616

Middle Eastern (MID) AF: 0.129 AC: 38 AN: 294

European-Non Finnish (NFE) AF: 0.0902 AC: 6137 AN: 68012

Other (OTH) AF: 0.0789 AC: 167 AN: 2116

Alfa AF: 0.0825 Hom.: 69

Bravo AF: 0.0672

Asia WGS AF: 0.0360 AC: 126 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	2.4
DANN	Benign	0.75
PhyloP100		-0.56

Splicing

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

Other links and lift over

dbSNP: rs8137602; hg19: chr22-37274649;