rs67068737

Variant names:

• chr20-45324870-G-A
• rs67068737

Your query was ambiguous. Multiple possible variants found:

• chr20-45324870-G-A
• chr20-45324870-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 0.176 in 152,190 control chromosomes in the GnomAD database, including 2,281 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 0.18 (2281 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -6.03
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.179 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.176 AC: 26781 AN: 152070 Hom.: 2278 Cov.: 33

Gnomad AFR AF: 0.183

Gnomad AMI AF: 0.154

Gnomad AMR AF: 0.170

Gnomad ASJ AF: 0.187

Gnomad EAS AF: 0.157

Gnomad SAS AF: 0.106

Gnomad FIN AF: 0.173

Gnomad MID AF: 0.152

Gnomad NFE AF: 0.181

Gnomad OTH AF: 0.168

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

GnomAD4 genome AF: 0.176 AC: 26805 AN: 152190 Hom.: 2281 Cov.: 33 AF XY: 0.172 AC XY: 12795 AN XY: 74416

African (AFR) AF: 0.183 AC: 7582 AN: 41518

American (AMR) AF: 0.170 AC: 2596 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.187 AC: 647 AN: 3466

East Asian (EAS) AF: 0.158 AC: 816 AN: 5176

South Asian (SAS) AF: 0.105 AC: 508 AN: 4830

European-Finnish (FIN) AF: 0.173 AC: 1834 AN: 10598

Middle Eastern (MID) AF: 0.160 AC: 47 AN: 294

European-Non Finnish (NFE) AF: 0.181 AC: 12277 AN: 67990

Other (OTH) AF: 0.170 AC: 358 AN: 2112

Alfa AF: 0.0842 Hom.: 120

Bravo AF: 0.179

Asia WGS AF: 0.162 AC: 562 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.015
DANN	Benign	0.60
PhyloP100		-6.0

Splicing

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

Other links and lift over

dbSNP: rs67068737; hg19: chr20-43953510;