rs36221477

Variant names:

• chr21-44980169-G-A
• rs36221477

Your query was ambiguous. Multiple possible variants found:

• chr21-44980169-G-A
• chr21-44980169-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 0.0954 in 152,296 control chromosomes in the GnomAD database, including 818 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 0.095 (818 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.04

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.129 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: 0.0955 AC: 14528 AN: 152178 Hom.: 814 Cov.: 33

Gnomad AFR AF: 0.0288

Gnomad AMI AF: 0.0910

Gnomad AMR AF: 0.0929

Gnomad ASJ AF: 0.151

Gnomad EAS AF: 0.0903

Gnomad SAS AF: 0.119

Gnomad FIN AF: 0.0958

Gnomad MID AF: 0.180

Gnomad NFE AF: 0.132

Gnomad OTH AF: 0.113

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

GnomAD4 genome AF: 0.0954 AC: 14530 AN: 152296 Hom.: 818 Cov.: 33 AF XY: 0.0929 AC XY: 6917 AN XY: 74466

Gnomad4 AFR AF: 0.0287

Gnomad4 AMR AF: 0.0927

Gnomad4 ASJ AF: 0.151

Gnomad4 EAS AF: 0.0903

Gnomad4 SAS AF: 0.120

Gnomad4 FIN AF: 0.0958

Gnomad4 NFE AF: 0.132

Gnomad4 OTH AF: 0.115

Alfa AF: 0.0568 Hom.: 60

Bravo AF: 0.0918

Asia WGS AF: 0.114 AC: 395 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.2
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs36221477; hg19: chr21-46400084;