rs972153

chr22-35704363-C-Achr22-35704363-C-T

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 0.688 in 151,980 control chromosomes in the GnomAD database, including 36,659 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 0.69 (36659 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.622

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.71).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.813 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: 0.688 AC: 104477 AN: 151862 Hom.: 36627 Cov.: 31

Gnomad AFR AF: 0.820

Gnomad AMI AF: 0.613

Gnomad AMR AF: 0.569

Gnomad ASJ AF: 0.598

Gnomad EAS AF: 0.719

Gnomad SAS AF: 0.678

Gnomad FIN AF: 0.601

Gnomad MID AF: 0.652

Gnomad NFE AF: 0.652

Gnomad OTH AF: 0.684

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

GnomAD4 genome AF: 0.688 AC: 104566 AN: 151980 Hom.: 36659 Cov.: 31 AF XY: 0.684 AC XY: 50823 AN XY: 74284

Gnomad4 AFR AF: 0.820

Gnomad4 AMR AF: 0.569

Gnomad4 ASJ AF: 0.598

Gnomad4 EAS AF: 0.719

Gnomad4 SAS AF: 0.679

Gnomad4 FIN AF: 0.601

Gnomad4 NFE AF: 0.652

Gnomad4 OTH AF: 0.684

Alfa AF: 0.599 Hom.: 3596

Bravo AF: 0.693

Asia WGS AF: 0.720 AC: 2502 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.71
Cadd	Benign	1.2
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: rs972153; hg19: chr22-36100410;