rs738141

Variant names:

• chr22-38797061-C-T
• rs738141

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 0.809 in 152,068 control chromosomes in the GnomAD database, including 49,968 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 0.81 (49968 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.22

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.871 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: 0.809 AC: 122998 AN: 151950 Hom.: 49928 Cov.: 31

Gnomad AFR AF: 0.763

Gnomad AMI AF: 0.652

Gnomad AMR AF: 0.853

Gnomad ASJ AF: 0.780

Gnomad EAS AF: 0.892

Gnomad SAS AF: 0.827

Gnomad FIN AF: 0.815

Gnomad MID AF: 0.766

Gnomad NFE AF: 0.823

Gnomad OTH AF: 0.801

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

GnomAD4 genome AF: 0.809 AC: 123091 AN: 152068 Hom.: 49968 Cov.: 31 AF XY: 0.810 AC XY: 60195 AN XY: 74336

Gnomad4 AFR AF: 0.763

Gnomad4 AMR AF: 0.853

Gnomad4 ASJ AF: 0.780

Gnomad4 EAS AF: 0.892

Gnomad4 SAS AF: 0.827

Gnomad4 FIN AF: 0.815

Gnomad4 NFE AF: 0.823

Gnomad4 OTH AF: 0.802

Alfa AF: 0.822 Hom.: 23423

Bravo AF: 0.811

Asia WGS AF: 0.868 AC: 3017 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	1.1
DANN	Benign	0.78

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs738141; hg19: chr22-39193066;