rs995636

Variant names:

• chr20-7028177-G-A
• rs995636

Your query was ambiguous. Multiple possible variants found:

• chr20-7028177-G-A
• chr20-7028177-G-C

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 0.604 in 151,926 control chromosomes in the GnomAD database, including 33,329 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 0.60 (33329 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0690
• Publications: 2 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 = 0.836 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: 0.605 AC: 91824 AN: 151810 Hom.: 33329 Cov.: 31

Gnomad AFR AF: 0.171

Gnomad AMI AF: 0.836

Gnomad AMR AF: 0.739

Gnomad ASJ AF: 0.744

Gnomad EAS AF: 0.857

Gnomad SAS AF: 0.680

Gnomad FIN AF: 0.779

Gnomad MID AF: 0.684

Gnomad NFE AF: 0.775

Gnomad OTH AF: 0.640

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

GnomAD4 genome AF: 0.604 AC: 91825 AN: 151926 Hom.: 33329 Cov.: 31 AF XY: 0.610 AC XY: 45296 AN XY: 74264

African (AFR) AF: 0.170 AC: 7041 AN: 41376

American (AMR) AF: 0.739 AC: 11293 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.744 AC: 2579 AN: 3468

East Asian (EAS) AF: 0.857 AC: 4436 AN: 5174

South Asian (SAS) AF: 0.680 AC: 3280 AN: 4824

European-Finnish (FIN) AF: 0.779 AC: 8206 AN: 10532

Middle Eastern (MID) AF: 0.680 AC: 200 AN: 294

European-Non Finnish (NFE) AF: 0.775 AC: 52683 AN: 67960

Other (OTH) AF: 0.638 AC: 1348 AN: 2114

Alfa AF: 0.723 Hom.: 86733

Bravo AF: 0.583

Asia WGS AF: 0.707 AC: 2454 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	2.7
DANN	Benign	0.34
PhyloP100		0.069

Splicing

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

Other links and lift over

dbSNP: rs995636; hg19: chr20-7008824;