rs136414

Variant names:

• chr22-32179162-G-A
• rs136414

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 0.337 in 151,956 control chromosomes in the GnomAD database, including 9,670 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 0.34 (9670 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.734
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.495 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: 0.337 AC: 51191 AN: 151838 Hom.: 9645 Cov.: 32

Gnomad AFR AF: 0.501

Gnomad AMI AF: 0.230

Gnomad AMR AF: 0.211

Gnomad ASJ AF: 0.282

Gnomad EAS AF: 0.0904

Gnomad SAS AF: 0.297

Gnomad FIN AF: 0.280

Gnomad MID AF: 0.318

Gnomad NFE AF: 0.302

Gnomad OTH AF: 0.293

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

GnomAD4 genome AF: 0.337 AC: 51263 AN: 151956 Hom.: 9670 Cov.: 32 AF XY: 0.334 AC XY: 24772 AN XY: 74262

African (AFR) AF: 0.501 AC: 20759 AN: 41432

American (AMR) AF: 0.211 AC: 3225 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.282 AC: 979 AN: 3468

East Asian (EAS) AF: 0.0906 AC: 469 AN: 5178

South Asian (SAS) AF: 0.296 AC: 1422 AN: 4798

European-Finnish (FIN) AF: 0.280 AC: 2954 AN: 10538

Middle Eastern (MID) AF: 0.312 AC: 91 AN: 292

European-Non Finnish (NFE) AF: 0.302 AC: 20532 AN: 67946

Other (OTH) AF: 0.295 AC: 622 AN: 2106

Alfa AF: 0.343 Hom.: 1869

Bravo AF: 0.338

Asia WGS AF: 0.249 AC: 864 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	2.2
DANN	Benign	0.77
PhyloP100		-0.73

Splicing

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

Other links and lift over

dbSNP: rs136414; hg19: chr22-32575149;