rs10021851

Variant names:

• chr4-40366831-G-A
• rs10021851

Your query was ambiguous. Multiple possible variants found:

• chr4-40366831-G-A
• chr4-40366831-G-C
• chr4-40366831-G-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 0.405 in 152,040 control chromosomes in the GnomAD database, including 13,865 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 0.41 (13865 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.851

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.75 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: 0.405 AC: 61561 AN: 151924 Hom.: 13855 Cov.: 33

Gnomad AFR AF: 0.207

Gnomad AMI AF: 0.394

Gnomad AMR AF: 0.437

Gnomad ASJ AF: 0.528

Gnomad EAS AF: 0.770

Gnomad SAS AF: 0.549

Gnomad FIN AF: 0.443

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.468

Gnomad OTH AF: 0.421

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

GnomAD4 genome AF: 0.405 AC: 61588 AN: 152040 Hom.: 13865 Cov.: 33 AF XY: 0.410 AC XY: 30457 AN XY: 74310

Gnomad4 AFR AF: 0.207

Gnomad4 AMR AF: 0.437

Gnomad4 ASJ AF: 0.528

Gnomad4 EAS AF: 0.770

Gnomad4 SAS AF: 0.551

Gnomad4 FIN AF: 0.443

Gnomad4 NFE AF: 0.468

Gnomad4 OTH AF: 0.422

Alfa AF: 0.463 Hom.: 22444

Bravo AF: 0.396

Asia WGS AF: 0.619 AC: 2150 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.24
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10021851; hg19: chr4-40368848;