rs4832734

Variant names:

• chr4-37701376-C-T
• rs4832734

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 0.84 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
• Publications: 2 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 = 0.969 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: 0.840 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

African (AFR) AF: 0.829 AC: 34379 AN: 41488

American (AMR) AF: 0.877 AC: 13419 AN: 15308

Ashkenazi Jewish (ASJ) AF: 0.855 AC: 2968 AN: 3470

East Asian (EAS) AF: 0.991 AC: 5144 AN: 5190

South Asian (SAS) AF: 0.860 AC: 4139 AN: 4814

European-Finnish (FIN) AF: 0.850 AC: 8973 AN: 10556

Middle Eastern (MID) AF: 0.840 AC: 247 AN: 294

European-Non Finnish (NFE) AF: 0.824 AC: 56053 AN: 68012

Other (OTH) AF: 0.841 AC: 1778 AN: 2114

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.14
DANN	Benign	0.20
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs4832734; hg19: chr4-37702998;