rs8136107

Variant names:

• chr22-36971267-G-A
• rs8136107

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 0.156 in 152,038 control chromosomes in the GnomAD database, including 2,538 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 0.16 (2538 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.358

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.299 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: 0.155 AC: 23616 AN: 151920 Hom.: 2523 Cov.: 32

Gnomad AFR AF: 0.303

Gnomad AMI AF: 0.111

Gnomad AMR AF: 0.166

Gnomad ASJ AF: 0.0826

Gnomad EAS AF: 0.00404

Gnomad SAS AF: 0.0875

Gnomad FIN AF: 0.0831

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.0965

Gnomad OTH AF: 0.132

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

GnomAD4 genome AF: 0.156 AC: 23679 AN: 152038 Hom.: 2538 Cov.: 32 AF XY: 0.153 AC XY: 11340 AN XY: 74314

Gnomad4 AFR AF: 0.303

Gnomad4 AMR AF: 0.166

Gnomad4 ASJ AF: 0.0826

Gnomad4 EAS AF: 0.00405

Gnomad4 SAS AF: 0.0880

Gnomad4 FIN AF: 0.0831

Gnomad4 NFE AF: 0.0965

Gnomad4 OTH AF: 0.130

Alfa AF: 0.116 Hom.: 1268

Bravo AF: 0.168

Asia WGS AF: 0.0680 AC: 237 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	2.5
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8136107; hg19: chr22-37367308;