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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.743

Gnomad4 AMR AF: 0.948

Gnomad4 ASJ AF: 0.969

Gnomad4 EAS AF: 0.995

Gnomad4 SAS AF: 0.955

Gnomad4 FIN AF: 0.989

Gnomad4 NFE AF: 0.970

Gnomad4 OTH AF: 0.916

Alfa AF: 0.945 Hom.: 15875

Bravo AF: 0.898

Asia WGS AF: 0.954 AC: 3316 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs910952; hg19: chr20-4193694;