rs10482910

Variant names:

• chr21-20464513-G-A
• rs10482910

Your query was ambiguous. Multiple possible variants found:

• chr21-20464513-G-A
• chr21-20464513-G-C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0372 in 151,842 control chromosomes in the GnomAD database, including 208 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 0.037 (208 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.692
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.166 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: 0.0373 AC: 5656 AN: 151724 Hom.: 210 Cov.: 32

Gnomad AFR AF: 0.0577

Gnomad AMI AF: 0.0384

Gnomad AMR AF: 0.0327

Gnomad ASJ AF: 0.00577

Gnomad EAS AF: 0.175

Gnomad SAS AF: 0.0569

Gnomad FIN AF: 0.0453

Gnomad MID AF: 0.0127

Gnomad NFE AF: 0.0148

Gnomad OTH AF: 0.0264

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

GnomAD4 genome AF: 0.0372 AC: 5655 AN: 151842 Hom.: 208 Cov.: 32 AF XY: 0.0405 AC XY: 3004 AN XY: 74210

African (AFR) AF: 0.0576 AC: 2385 AN: 41394

American (AMR) AF: 0.0323 AC: 492 AN: 15224

Ashkenazi Jewish (ASJ) AF: 0.00577 AC: 20 AN: 3468

East Asian (EAS) AF: 0.175 AC: 906 AN: 5176

South Asian (SAS) AF: 0.0565 AC: 272 AN: 4810

European-Finnish (FIN) AF: 0.0453 AC: 479 AN: 10580

Middle Eastern (MID) AF: 0.0136 AC: 4 AN: 294

European-Non Finnish (NFE) AF: 0.0148 AC: 1005 AN: 67876

Other (OTH) AF: 0.0270 AC: 57 AN: 2108

Alfa AF: 0.00927 Hom.: 3

Bravo AF: 0.0363

Asia WGS AF: 0.105 AC: 365 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	4.6
DANN	Benign	0.54
PhyloP100		0.69

Splicing

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

Other links and lift over

dbSNP: rs10482910; hg19: chr21-21836825;