rs4464522

Variant names:

• chr4-31239120-T-C
• rs4464522

Your query was ambiguous. Multiple possible variants found:

• chr4-31239120-T-C
• chr4-31239120-T-G

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 0.417 in 151,864 control chromosomes in the GnomAD database, including 14,463 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 0.42 (14463 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.634
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.6 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: 0.417 AC: 63332 AN: 151746 Hom.: 14431 Cov.: 32

Gnomad AFR AF: 0.606

Gnomad AMI AF: 0.346

Gnomad AMR AF: 0.332

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.288

Gnomad SAS AF: 0.446

Gnomad FIN AF: 0.296

Gnomad MID AF: 0.573

Gnomad NFE AF: 0.343

Gnomad OTH AF: 0.437

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

GnomAD4 genome AF: 0.417 AC: 63402 AN: 151864 Hom.: 14463 Cov.: 32 AF XY: 0.416 AC XY: 30848 AN XY: 74236

African (AFR) AF: 0.606 AC: 25087 AN: 41394

American (AMR) AF: 0.331 AC: 5055 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.514 AC: 1784 AN: 3470

East Asian (EAS) AF: 0.287 AC: 1475 AN: 5134

South Asian (SAS) AF: 0.446 AC: 2136 AN: 4792

European-Finnish (FIN) AF: 0.296 AC: 3125 AN: 10568

Middle Eastern (MID) AF: 0.578 AC: 170 AN: 294

European-Non Finnish (NFE) AF: 0.343 AC: 23328 AN: 67930

Other (OTH) AF: 0.439 AC: 926 AN: 2110

Alfa AF: 0.382 Hom.: 1996

Bravo AF: 0.428

Asia WGS AF: 0.389 AC: 1355 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.8
DANN	Benign	0.35
PhyloP100		-0.63

Splicing

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

Other links and lift over

dbSNP: rs4464522; hg19: chr4-31240742;