rs235704

Variant names:

• chr20-6791616-A-G
• rs235704

Your query was ambiguous. Multiple possible variants found:

• chr20-6791616-A-G
• chr20-6791616-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 0.874 in 152,210 control chromosomes in the GnomAD database, including 58,183 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 0.87 (58183 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.208
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.917 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: 0.874 AC: 132890 AN: 152092 Hom.: 58131 Cov.: 32

Gnomad AFR AF: 0.858

Gnomad AMI AF: 0.947

Gnomad AMR AF: 0.871

Gnomad ASJ AF: 0.812

Gnomad EAS AF: 0.939

Gnomad SAS AF: 0.810

Gnomad FIN AF: 0.875

Gnomad MID AF: 0.747

Gnomad NFE AF: 0.887

Gnomad OTH AF: 0.853

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

GnomAD4 genome AF: 0.874 AC: 133000 AN: 152210 Hom.: 58183 Cov.: 32 AF XY: 0.871 AC XY: 64834 AN XY: 74406

African (AFR) AF: 0.858 AC: 35616 AN: 41514

American (AMR) AF: 0.872 AC: 13320 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.812 AC: 2819 AN: 3470

East Asian (EAS) AF: 0.939 AC: 4866 AN: 5180

South Asian (SAS) AF: 0.810 AC: 3903 AN: 4820

European-Finnish (FIN) AF: 0.875 AC: 9269 AN: 10594

Middle Eastern (MID) AF: 0.762 AC: 224 AN: 294

European-Non Finnish (NFE) AF: 0.887 AC: 60312 AN: 68028

Other (OTH) AF: 0.855 AC: 1807 AN: 2114

Alfa AF: 0.881 Hom.: 54591

Bravo AF: 0.876

Asia WGS AF: 0.885 AC: 3079 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.0
DANN	Benign	0.73
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs235704; hg19: chr20-6772263;