rs8137602

Variant names:

• chr22-36878607-C-G
• rs8137602

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 0.0677 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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.0461

Gnomad4 AMR AF: 0.0575

Gnomad4 ASJ AF: 0.0660

Gnomad4 EAS AF: 0.00173

Gnomad4 SAS AF: 0.0601

Gnomad4 FIN AF: 0.0484

Gnomad4 NFE AF: 0.0902

Gnomad4 OTH AF: 0.0789

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8137602; hg19: chr22-37274649;