rs235730

Variant names:

• chr20-6755542-A-G
• rs235730

Your query was ambiguous. Multiple possible variants found:

• chr20-6755542-A-G
• chr20-6755542-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 0.681 in 152,092 control chromosomes in the GnomAD database, including 36,393 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 0.68 (36393 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0130
• 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 = 0.845 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.681 AC: 103481 AN: 151974 Hom.: 36349 Cov.: 32

Gnomad AFR AF: 0.852

Gnomad AMI AF: 0.529

Gnomad AMR AF: 0.651

Gnomad ASJ AF: 0.645

Gnomad EAS AF: 0.763

Gnomad SAS AF: 0.556

Gnomad FIN AF: 0.668

Gnomad MID AF: 0.684

Gnomad NFE AF: 0.591

Gnomad OTH AF: 0.693

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

GnomAD4 genome AF: 0.681 AC: 103581 AN: 152092 Hom.: 36393 Cov.: 32 AF XY: 0.682 AC XY: 50672 AN XY: 74352

African (AFR) AF: 0.852 AC: 35379 AN: 41510

American (AMR) AF: 0.651 AC: 9950 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.645 AC: 2240 AN: 3472

East Asian (EAS) AF: 0.762 AC: 3939 AN: 5170

South Asian (SAS) AF: 0.555 AC: 2665 AN: 4804

European-Finnish (FIN) AF: 0.668 AC: 7069 AN: 10576

Middle Eastern (MID) AF: 0.677 AC: 199 AN: 294

European-Non Finnish (NFE) AF: 0.591 AC: 40188 AN: 67960

Other (OTH) AF: 0.696 AC: 1470 AN: 2112

Alfa AF: 0.619 Hom.: 46132

Bravo AF: 0.689

Asia WGS AF: 0.678 AC: 2361 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	3.3
DANN	Benign	0.76
PhyloP100		0.013

Splicing

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

Other links and lift over

dbSNP: rs235730; hg19: chr20-6736189;