rs910952

Variant names:

• chr20-4213047-G-A
• rs910952

Your query was ambiguous. Multiple possible variants found:

• chr20-4213047-G-A
• chr20-4213047-G-C
• chr20-4213047-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 0.907 in 152,170 control chromosomes in the GnomAD database, including 63,418 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 0.91 (63418 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.06
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.972 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: 0.907 AC: 137898 AN: 152052 Hom.: 63379 Cov.: 31

Gnomad AFR AF: 0.743

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.948

Gnomad ASJ AF: 0.969

Gnomad EAS AF: 0.995

Gnomad SAS AF: 0.955

Gnomad FIN AF: 0.989

Gnomad MID AF: 0.934

Gnomad NFE AF: 0.970

Gnomad OTH AF: 0.915

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

GnomAD4 genome AF: 0.907 AC: 137988 AN: 152170 Hom.: 63418 Cov.: 31 AF XY: 0.908 AC XY: 67568 AN XY: 74420

African (AFR) AF: 0.743 AC: 30785 AN: 41446

American (AMR) AF: 0.948 AC: 14490 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.969 AC: 3361 AN: 3470

East Asian (EAS) AF: 0.995 AC: 5160 AN: 5188

South Asian (SAS) AF: 0.955 AC: 4603 AN: 4820

European-Finnish (FIN) AF: 0.989 AC: 10494 AN: 10610

Middle Eastern (MID) AF: 0.932 AC: 274 AN: 294

European-Non Finnish (NFE) AF: 0.970 AC: 65971 AN: 68032

Other (OTH) AF: 0.916 AC: 1938 AN: 2116

Alfa AF: 0.944 Hom.: 27025

Bravo AF: 0.898

Asia WGS AF: 0.954 AC: 3316 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.11
DANN	Benign	0.48
PhyloP100		-2.1

Splicing

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

Other links and lift over

dbSNP: rs910952; hg19: chr20-4193694;