rs4832734

Variant names:

• chr4-37701376-C-T
• rs4832734

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 0.84 in 152,156 control chromosomes in the GnomAD database, including 53,732 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 0.84 (53732 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.56

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 = 0.969 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: 0.840 AC: 127747 AN: 152038 Hom.: 53682 Cov.: 32

Gnomad AFR AF: 0.829

Gnomad AMI AF: 0.827

Gnomad AMR AF: 0.876

Gnomad ASJ AF: 0.855

Gnomad EAS AF: 0.991

Gnomad SAS AF: 0.860

Gnomad FIN AF: 0.850

Gnomad MID AF: 0.848

Gnomad NFE AF: 0.824

Gnomad OTH AF: 0.840

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

GnomAD4 genome AF: 0.840 AC: 127853 AN: 152156 Hom.: 53732 Cov.: 32 AF XY: 0.844 AC XY: 62791 AN XY: 74384

Gnomad4 AFR AF: 0.829

Gnomad4 AMR AF: 0.877

Gnomad4 ASJ AF: 0.855

Gnomad4 EAS AF: 0.991

Gnomad4 SAS AF: 0.860

Gnomad4 FIN AF: 0.850

Gnomad4 NFE AF: 0.824

Gnomad4 OTH AF: 0.841

Alfa AF: 0.836 Hom.: 6599

Bravo AF: 0.845

Asia WGS AF: 0.912 AC: 3173 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	0.14
DANN	Benign	0.20

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4832734; hg19: chr4-37702998;