rs2326536

Variant names:

• chr20-4581495-A-G
• rs2326536

Your query was ambiguous. Multiple possible variants found:

• chr20-4581495-A-G
• chr20-4581495-A-T

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 0.836 in 152,102 control chromosomes in the GnomAD database, including 54,462 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 0.84 (54462 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.518
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.963 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.836 AC: 127070 AN: 151984 Hom.: 54443 Cov.: 31

Gnomad AFR AF: 0.632

Gnomad AMI AF: 0.934

Gnomad AMR AF: 0.885

Gnomad ASJ AF: 0.871

Gnomad EAS AF: 0.986

Gnomad SAS AF: 0.932

Gnomad FIN AF: 0.948

Gnomad MID AF: 0.905

Gnomad NFE AF: 0.909

Gnomad OTH AF: 0.852

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

GnomAD4 genome AF: 0.836 AC: 127138 AN: 152102 Hom.: 54462 Cov.: 31 AF XY: 0.841 AC XY: 62516 AN XY: 74374

African (AFR) AF: 0.632 AC: 26190 AN: 41432

American (AMR) AF: 0.885 AC: 13516 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.871 AC: 3021 AN: 3470

East Asian (EAS) AF: 0.985 AC: 5092 AN: 5168

South Asian (SAS) AF: 0.932 AC: 4485 AN: 4810

European-Finnish (FIN) AF: 0.948 AC: 10054 AN: 10608

Middle Eastern (MID) AF: 0.905 AC: 266 AN: 294

European-Non Finnish (NFE) AF: 0.909 AC: 61867 AN: 68024

Other (OTH) AF: 0.853 AC: 1799 AN: 2108

Alfa AF: 0.889 Hom.: 106849

Bravo AF: 0.823

Asia WGS AF: 0.938 AC: 3261 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.77
DANN	Benign	0.68
PhyloP100		-0.52

Splicing

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

Other links and lift over

dbSNP: rs2326536; hg19: chr20-4562141;