rs2884681

Variant names:

• chr10-20349137-G-A
• rs2884681

Your query was ambiguous. Multiple possible variants found:

• chr10-20349137-G-A
• chr10-20349137-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 0.347 in 151,896 control chromosomes in the GnomAD database, including 9,669 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 0.35 (9669 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.555

ACMG classification

Verdict is Benign. Variant got -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 = 0.465 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: 0.347 AC: 52703 AN: 151778 Hom.: 9673 Cov.: 31

Gnomad AFR AF: 0.218

Gnomad AMI AF: 0.484

Gnomad AMR AF: 0.431

Gnomad ASJ AF: 0.324

Gnomad EAS AF: 0.481

Gnomad SAS AF: 0.355

Gnomad FIN AF: 0.359

Gnomad MID AF: 0.313

Gnomad NFE AF: 0.393

Gnomad OTH AF: 0.367

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

GnomAD4 genome AF: 0.347 AC: 52709 AN: 151896 Hom.: 9669 Cov.: 31 AF XY: 0.346 AC XY: 25713 AN XY: 74228

Gnomad4 AFR AF: 0.218

Gnomad4 AMR AF: 0.431

Gnomad4 ASJ AF: 0.324

Gnomad4 EAS AF: 0.481

Gnomad4 SAS AF: 0.354

Gnomad4 FIN AF: 0.359

Gnomad4 NFE AF: 0.393

Gnomad4 OTH AF: 0.365

Alfa AF: 0.384 Hom.: 5717

Bravo AF: 0.349

Asia WGS AF: 0.426 AC: 1482 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.3
DANN	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2884681; hg19: chr10-20638066;