8-29440001-G-C

Variant names:

• chr8-29440001-G-C
• rs4732942

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 0.614 in 152,114 control chromosomes in the GnomAD database, including 34,166 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 0.61 (34166 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00600
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.798 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: 0.615 AC: 93409 AN: 151998 Hom.: 34166 Cov.: 32

Gnomad AFR AF: 0.188

Gnomad AMI AF: 0.594

Gnomad AMR AF: 0.701

Gnomad ASJ AF: 0.761

Gnomad EAS AF: 0.695

Gnomad SAS AF: 0.638

Gnomad FIN AF: 0.831

Gnomad MID AF: 0.744

Gnomad NFE AF: 0.804

Gnomad OTH AF: 0.656

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

GnomAD4 genome AF: 0.614 AC: 93421 AN: 152114 Hom.: 34166 Cov.: 32 AF XY: 0.617 AC XY: 45886 AN XY: 74368

African (AFR) AF: 0.188 AC: 7796 AN: 41472

American (AMR) AF: 0.701 AC: 10713 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.761 AC: 2643 AN: 3472

East Asian (EAS) AF: 0.695 AC: 3604 AN: 5182

South Asian (SAS) AF: 0.637 AC: 3066 AN: 4810

European-Finnish (FIN) AF: 0.831 AC: 8793 AN: 10584

Middle Eastern (MID) AF: 0.748 AC: 220 AN: 294

European-Non Finnish (NFE) AF: 0.804 AC: 54662 AN: 67998

Other (OTH) AF: 0.656 AC: 1382 AN: 2106

Alfa AF: 0.682 Hom.: 4700

Bravo AF: 0.587

Asia WGS AF: 0.611 AC: 2125 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.0
DANN	Benign	0.62
PhyloP100		0.0060

Splicing

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

Other links and lift over

dbSNP: rs4732942; hg19: chr8-29297518;