rs10483084

Variant names:

• chr21-41975215-G-A
• rs10483084

Your query was ambiguous. Multiple possible variants found:

• chr21-41975215-G-A
• chr21-41975215-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 0.232 in 152,146 control chromosomes in the GnomAD database, including 4,582 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 0.23 (4582 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.783

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.577 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: 0.232 AC: 35292 AN: 152028 Hom.: 4579 Cov.: 32

Gnomad AFR AF: 0.192

Gnomad AMI AF: 0.120

Gnomad AMR AF: 0.180

Gnomad ASJ AF: 0.205

Gnomad EAS AF: 0.595

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.290

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.233

Gnomad OTH AF: 0.238

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

GnomAD4 genome AF: 0.232 AC: 35317 AN: 152146 Hom.: 4582 Cov.: 32 AF XY: 0.237 AC XY: 17654 AN XY: 74364

Gnomad4 AFR AF: 0.192

Gnomad4 AMR AF: 0.180

Gnomad4 ASJ AF: 0.205

Gnomad4 EAS AF: 0.595

Gnomad4 SAS AF: 0.255

Gnomad4 FIN AF: 0.290

Gnomad4 NFE AF: 0.233

Gnomad4 OTH AF: 0.242

Alfa AF: 0.206 Hom.: 1816

Bravo AF: 0.225

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.19
DANN	Benign	0.21

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10483084; hg19: chr21-43395324;