rs4810624

Variant names:

• chr20-37414503-T-C
• rs4810624

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 0.0454 in 150,556 control chromosomes in the GnomAD database, including 278 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 0.045 (278 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.18

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.205 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: 0.0453 AC: 6819 AN: 150434 Hom.: 280 Cov.: 27

Gnomad AFR AF: 0.0274

Gnomad AMI AF: 0.0560

Gnomad AMR AF: 0.104

Gnomad ASJ AF: 0.0511

Gnomad EAS AF: 0.216

Gnomad SAS AF: 0.0355

Gnomad FIN AF: 0.0182

Gnomad MID AF: 0.0446

Gnomad NFE AF: 0.0346

Gnomad OTH AF: 0.0554

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

GnomAD4 genome AF: 0.0454 AC: 6830 AN: 150556 Hom.: 278 Cov.: 27 AF XY: 0.0465 AC XY: 3415 AN XY: 73492

Gnomad4 AFR AF: 0.0275

Gnomad4 AMR AF: 0.104

Gnomad4 ASJ AF: 0.0511

Gnomad4 EAS AF: 0.216

Gnomad4 SAS AF: 0.0353

Gnomad4 FIN AF: 0.0182

Gnomad4 NFE AF: 0.0346

Gnomad4 OTH AF: 0.0553

Alfa AF: 0.0372 Hom.: 76

Bravo AF: 0.0536

Asia WGS AF: 0.107 AC: 370 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	12
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4810624; hg19: chr20-36042906;