rs910668

Variant names:

• chr20-55786290-G-A
• rs910668

Your query was ambiguous. Multiple possible variants found:

• chr20-55786290-G-A
• chr20-55786290-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 0.24 in 150,718 control chromosomes in the GnomAD database, including 4,809 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 0.24 (4809 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.43
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.287 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: 0.240 AC: 36219 AN: 150628 Hom.: 4809 Cov.: 31

Gnomad AFR AF: 0.185

Gnomad AMI AF: 0.211

Gnomad AMR AF: 0.206

Gnomad ASJ AF: 0.322

Gnomad EAS AF: 0.0419

Gnomad SAS AF: 0.214

Gnomad FIN AF: 0.263

Gnomad MID AF: 0.381

Gnomad NFE AF: 0.291

Gnomad OTH AF: 0.254

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

GnomAD4 genome AF: 0.240 AC: 36221 AN: 150718 Hom.: 4809 Cov.: 31 AF XY: 0.236 AC XY: 17342 AN XY: 73494

African (AFR) AF: 0.185 AC: 7599 AN: 41112

American (AMR) AF: 0.205 AC: 3120 AN: 15196

Ashkenazi Jewish (ASJ) AF: 0.322 AC: 1117 AN: 3468

East Asian (EAS) AF: 0.0418 AC: 216 AN: 5162

South Asian (SAS) AF: 0.213 AC: 1019 AN: 4778

European-Finnish (FIN) AF: 0.263 AC: 2643 AN: 10034

Middle Eastern (MID) AF: 0.372 AC: 107 AN: 288

European-Non Finnish (NFE) AF: 0.291 AC: 19684 AN: 67696

Other (OTH) AF: 0.253 AC: 525 AN: 2078

Alfa AF: 0.276 Hom.: 9326

Bravo AF: 0.235

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.053
DANN	Benign	0.42
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs910668; hg19: chr20-54361346;