rs7281733

Positions:

• chr21-41283588-G-A
• chr21-41283588-G-C

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 0.221 in 152,100 control chromosomes in the GnomAD database, including 4,432 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 0.22 (4432 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.27

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.373 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.221 AC: 33537 AN: 151982 Hom.: 4417 Cov.: 32

Gnomad AFR AF: 0.378

Gnomad AMI AF: 0.0965

Gnomad AMR AF: 0.216

Gnomad ASJ AF: 0.194

Gnomad EAS AF: 0.152

Gnomad SAS AF: 0.247

Gnomad FIN AF: 0.159

Gnomad MID AF: 0.241

Gnomad NFE AF: 0.142

Gnomad OTH AF: 0.223

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

GnomAD4 genome AF: 0.221 AC: 33606 AN: 152100 Hom.: 4432 Cov.: 32 AF XY: 0.222 AC XY: 16508 AN XY: 74372

Gnomad4 AFR AF: 0.378

Gnomad4 AMR AF: 0.216

Gnomad4 ASJ AF: 0.194

Gnomad4 EAS AF: 0.152

Gnomad4 SAS AF: 0.247

Gnomad4 FIN AF: 0.159

Gnomad4 NFE AF: 0.142

Gnomad4 OTH AF: 0.226

Alfa AF: 0.156 Hom.: 3368

Bravo AF: 0.229

Asia WGS AF: 0.258 AC: 900 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.54
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7281733; hg19: chr21-42655515;