rs7270207

Variant names:

• chr20-31733080-G-C
• rs7270207

Your query was ambiguous. Multiple possible variants found:

• chr20-31733080-G-C
• chr20-31733080-G-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 0.0879 in 152,116 control chromosomes in the GnomAD database, including 663 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 0.088 (663 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0430
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.135 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: 0.0878 AC: 13344 AN: 151998 Hom.: 660 Cov.: 32

Gnomad AFR AF: 0.138

Gnomad AMI AF: 0.0824

Gnomad AMR AF: 0.0623

Gnomad ASJ AF: 0.0855

Gnomad EAS AF: 0.000962

Gnomad SAS AF: 0.0263

Gnomad FIN AF: 0.0727

Gnomad MID AF: 0.104

Gnomad NFE AF: 0.0764

Gnomad OTH AF: 0.0970

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

GnomAD4 genome AF: 0.0879 AC: 13378 AN: 152116 Hom.: 663 Cov.: 32 AF XY: 0.0852 AC XY: 6339 AN XY: 74382

African (AFR) AF: 0.138 AC: 5725 AN: 41472

American (AMR) AF: 0.0621 AC: 949 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.0855 AC: 297 AN: 3472

East Asian (EAS) AF: 0.000964 AC: 5 AN: 5188

South Asian (SAS) AF: 0.0268 AC: 129 AN: 4818

European-Finnish (FIN) AF: 0.0727 AC: 769 AN: 10574

Middle Eastern (MID) AF: 0.109 AC: 32 AN: 294

European-Non Finnish (NFE) AF: 0.0764 AC: 5193 AN: 67994

Other (OTH) AF: 0.0965 AC: 204 AN: 2114

Alfa AF: 0.0100 Hom.: 3

Bravo AF: 0.0903

Asia WGS AF: 0.0200 AC: 70 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.7
DANN	Benign	0.62
PhyloP100		-0.043

Splicing

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

Other links and lift over

dbSNP: rs7270207; hg19: chr20-30320883;