rs4357259

Variant names:

• chr8-110823464-C-A
• rs4357259

Your query was ambiguous. Multiple possible variants found:

• chr8-110823464-C-A
• chr8-110823464-C-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 0.773 in 151,752 control chromosomes in the GnomAD database, including 46,084 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 0.77 (46084 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.04
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.835 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: 0.773 AC: 117234 AN: 151636 Hom.: 46041 Cov.: 30

Gnomad AFR AF: 0.729

Gnomad AMI AF: 0.944

Gnomad AMR AF: 0.680

Gnomad ASJ AF: 0.816

Gnomad EAS AF: 0.417

Gnomad SAS AF: 0.629

Gnomad FIN AF: 0.852

Gnomad MID AF: 0.812

Gnomad NFE AF: 0.841

Gnomad OTH AF: 0.783

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

GnomAD4 genome AF: 0.773 AC: 117327 AN: 151752 Hom.: 46084 Cov.: 30 AF XY: 0.766 AC XY: 56814 AN XY: 74166

African (AFR) AF: 0.729 AC: 30099 AN: 41270

American (AMR) AF: 0.680 AC: 10363 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.816 AC: 2833 AN: 3470

East Asian (EAS) AF: 0.416 AC: 2143 AN: 5148

South Asian (SAS) AF: 0.631 AC: 3032 AN: 4804

European-Finnish (FIN) AF: 0.852 AC: 9000 AN: 10564

Middle Eastern (MID) AF: 0.822 AC: 240 AN: 292

European-Non Finnish (NFE) AF: 0.841 AC: 57118 AN: 67946

Other (OTH) AF: 0.779 AC: 1638 AN: 2102

Alfa AF: 0.761 Hom.: 2608

Bravo AF: 0.761

Asia WGS AF: 0.529 AC: 1833 AN: 3462

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.034
DANN	Benign	0.21
PhyloP100		-2.0

Splicing

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

Other links and lift over

dbSNP: rs4357259; hg19: chr8-111835693;