rs136187

Variant names:

• chr22-36276230-A-C
• rs136187

Your query was ambiguous. Multiple possible variants found:

• chr22-36276230-A-C
• chr22-36276230-A-G

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 0.599 in 151,674 control chromosomes in the GnomAD database, including 27,653 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 0.60 (27653 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.137
• Publications: 17 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.778 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: 0.599 AC: 90720 AN: 151556 Hom.: 27621 Cov.: 32

Gnomad AFR AF: 0.486

Gnomad AMI AF: 0.714

Gnomad AMR AF: 0.661

Gnomad ASJ AF: 0.547

Gnomad EAS AF: 0.797

Gnomad SAS AF: 0.637

Gnomad FIN AF: 0.656

Gnomad MID AF: 0.510

Gnomad NFE AF: 0.627

Gnomad OTH AF: 0.604

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

GnomAD4 genome AF: 0.599 AC: 90790 AN: 151674 Hom.: 27653 Cov.: 32 AF XY: 0.604 AC XY: 44804 AN XY: 74124

African (AFR) AF: 0.486 AC: 20097 AN: 41368

American (AMR) AF: 0.662 AC: 10094 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.547 AC: 1896 AN: 3466

East Asian (EAS) AF: 0.798 AC: 4125 AN: 5170

South Asian (SAS) AF: 0.637 AC: 3069 AN: 4820

European-Finnish (FIN) AF: 0.656 AC: 6873 AN: 10470

Middle Eastern (MID) AF: 0.514 AC: 148 AN: 288

European-Non Finnish (NFE) AF: 0.627 AC: 42558 AN: 67834

Other (OTH) AF: 0.609 AC: 1283 AN: 2106

Alfa AF: 0.609 Hom.: 19263

Bravo AF: 0.592

Asia WGS AF: 0.732 AC: 2544 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.97
DANN	Benign	0.79
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs136187; hg19: chr22-36672276;