rs2836788

Variant names:

• chr21-38964966-A-G
• rs2836788

Your query was ambiguous. Multiple possible variants found:

• chr21-38964966-A-G
• chr21-38964966-A-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 0.718 in 150,252 control chromosomes in the GnomAD database, including 38,925 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 0.72 (38925 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.564

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.789 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: 0.718 AC: 107816 AN: 150142 Hom.: 38898 Cov.: 26

Gnomad AFR AF: 0.796

Gnomad AMI AF: 0.602

Gnomad AMR AF: 0.633

Gnomad ASJ AF: 0.660

Gnomad EAS AF: 0.618

Gnomad SAS AF: 0.678

Gnomad FIN AF: 0.725

Gnomad MID AF: 0.630

Gnomad NFE AF: 0.706

Gnomad OTH AF: 0.675

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

GnomAD4 genome AF: 0.718 AC: 107888 AN: 150252 Hom.: 38925 Cov.: 26 AF XY: 0.716 AC XY: 52423 AN XY: 73174

Gnomad4 AFR AF: 0.796

Gnomad4 AMR AF: 0.633

Gnomad4 ASJ AF: 0.660

Gnomad4 EAS AF: 0.617

Gnomad4 SAS AF: 0.679

Gnomad4 FIN AF: 0.725

Gnomad4 NFE AF: 0.706

Gnomad4 OTH AF: 0.671

Alfa AF: 0.708 Hom.: 17693

Bravo AF: 0.710

Asia WGS AF: 0.645 AC: 2244 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	1.3
DANN	Benign	0.85

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2836788; hg19: chr21-40336891;