22-37115036-C-G

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 0.276 in 152,072 control chromosomes in the GnomAD database, including 5,899 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 0.28 (5899 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.05

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.365 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.275 AC: 41842 AN: 151954 Hom.: 5881 Cov.: 32

Gnomad AFR AF: 0.322

Gnomad AMI AF: 0.151

Gnomad AMR AF: 0.239

Gnomad ASJ AF: 0.298

Gnomad EAS AF: 0.249

Gnomad SAS AF: 0.379

Gnomad FIN AF: 0.296

Gnomad MID AF: 0.269

Gnomad NFE AF: 0.247

Gnomad OTH AF: 0.261

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

GnomAD4 genome AF: 0.276 AC: 41901 AN: 152072 Hom.: 5899 Cov.: 32 AF XY: 0.278 AC XY: 20672 AN XY: 74320

Gnomad4 AFR AF: 0.322

Gnomad4 AMR AF: 0.239

Gnomad4 ASJ AF: 0.298

Gnomad4 EAS AF: 0.249

Gnomad4 SAS AF: 0.379

Gnomad4 FIN AF: 0.296

Gnomad4 NFE AF: 0.247

Gnomad4 OTH AF: 0.269

Alfa AF: 0.154 Hom.: 307

Bravo AF: 0.267

Asia WGS AF: 0.358 AC: 1248 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.95
Dann	Benign	0.64

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs763668; hg19: chr22-37511076;