rs7272481

Variant names:

• chr20-19181915-A-G
• rs7272481

Your query was ambiguous. Multiple possible variants found:

• chr20-19181915-A-G
• chr20-19181915-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 0.125 in 152,178 control chromosomes in the GnomAD database, including 1,268 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 0.13 (1268 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.209
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.138 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: 0.125 AC: 19059 AN: 152062 Hom.: 1261 Cov.: 32

Gnomad AFR AF: 0.131

Gnomad AMI AF: 0.190

Gnomad AMR AF: 0.0804

Gnomad ASJ AF: 0.0740

Gnomad EAS AF: 0.0338

Gnomad SAS AF: 0.0698

Gnomad FIN AF: 0.160

Gnomad MID AF: 0.0411

Gnomad NFE AF: 0.141

Gnomad OTH AF: 0.0986

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

GnomAD4 genome AF: 0.125 AC: 19095 AN: 152178 Hom.: 1268 Cov.: 32 AF XY: 0.125 AC XY: 9298 AN XY: 74410

African (AFR) AF: 0.131 AC: 5441 AN: 41524

American (AMR) AF: 0.0802 AC: 1226 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.0740 AC: 257 AN: 3472

East Asian (EAS) AF: 0.0339 AC: 176 AN: 5190

South Asian (SAS) AF: 0.0692 AC: 334 AN: 4824

European-Finnish (FIN) AF: 0.160 AC: 1696 AN: 10588

Middle Eastern (MID) AF: 0.0442 AC: 13 AN: 294

European-Non Finnish (NFE) AF: 0.141 AC: 9566 AN: 67984

Other (OTH) AF: 0.101 AC: 213 AN: 2112

Alfa AF: 0.129 Hom.: 5915

Bravo AF: 0.121

Asia WGS AF: 0.0640 AC: 222 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.9
DANN	Benign	0.75
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs7272481; hg19: chr20-19162559;