rs6087705

Variant names:

• chr20-35413447-G-A
• rs6087705

Your query was ambiguous. Multiple possible variants found:

• chr20-35413447-G-A
• chr20-35413447-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 0.559 in 151,790 control chromosomes in the GnomAD database, including 24,414 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 0.56 (24414 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.15
• Publications: 30 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.697 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: 0.559 AC: 84767 AN: 151672 Hom.: 24405 Cov.: 30

Gnomad AFR AF: 0.419

Gnomad AMI AF: 0.611

Gnomad AMR AF: 0.658

Gnomad ASJ AF: 0.556

Gnomad EAS AF: 0.717

Gnomad SAS AF: 0.443

Gnomad FIN AF: 0.572

Gnomad MID AF: 0.509

Gnomad NFE AF: 0.615

Gnomad OTH AF: 0.576

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

GnomAD4 genome AF: 0.559 AC: 84795 AN: 151790 Hom.: 24414 Cov.: 30 AF XY: 0.557 AC XY: 41268 AN XY: 74152

African (AFR) AF: 0.419 AC: 17344 AN: 41404

American (AMR) AF: 0.658 AC: 10014 AN: 15210

Ashkenazi Jewish (ASJ) AF: 0.556 AC: 1926 AN: 3464

East Asian (EAS) AF: 0.717 AC: 3699 AN: 5162

South Asian (SAS) AF: 0.442 AC: 2132 AN: 4822

European-Finnish (FIN) AF: 0.572 AC: 6017 AN: 10516

Middle Eastern (MID) AF: 0.517 AC: 152 AN: 294

European-Non Finnish (NFE) AF: 0.615 AC: 41758 AN: 67906

Other (OTH) AF: 0.569 AC: 1199 AN: 2106

Alfa AF: 0.594 Hom.: 88001

Bravo AF: 0.566

Asia WGS AF: 0.489 AC: 1702 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.36
DANN	Benign	0.43
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs6087705; hg19: chr20-34001250;