rs8136107

Variant names:

• chr22-36971267-G-A
• rs8136107

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 0.156 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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.303 AC: 12563 AN: 41412

American (AMR) AF: 0.166 AC: 2531 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.0826 AC: 286 AN: 3462

East Asian (EAS) AF: 0.00405 AC: 21 AN: 5188

South Asian (SAS) AF: 0.0880 AC: 424 AN: 4820

European-Finnish (FIN) AF: 0.0831 AC: 879 AN: 10576

Middle Eastern (MID) AF: 0.139 AC: 41 AN: 294

European-Non Finnish (NFE) AF: 0.0965 AC: 6559 AN: 67982

Other (OTH) AF: 0.130 AC: 274 AN: 2114

Alfa AF: 0.138 Hom.: 2953

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
PhyloP100		0.36

Splicing

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

Other links and lift over

dbSNP: rs8136107; hg19: chr22-37367308;