rs181224

Variant names:

• chr17-58113647-A-G
• rs181224

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 0.607 in 151,990 control chromosomes in the GnomAD database, including 30,632 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 (30632 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.572
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.861 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: 0.607 AC: 92251 AN: 151870 Hom.: 30636 Cov.: 31

Gnomad AFR AF: 0.316

Gnomad AMI AF: 0.689

Gnomad AMR AF: 0.653

Gnomad ASJ AF: 0.703

Gnomad EAS AF: 0.883

Gnomad SAS AF: 0.793

Gnomad FIN AF: 0.728

Gnomad MID AF: 0.623

Gnomad NFE AF: 0.714

Gnomad OTH AF: 0.636

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

GnomAD4 genome AF: 0.607 AC: 92263 AN: 151990 Hom.: 30632 Cov.: 31 AF XY: 0.613 AC XY: 45513 AN XY: 74296

African (AFR) AF: 0.316 AC: 13082 AN: 41410

American (AMR) AF: 0.653 AC: 9967 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.703 AC: 2440 AN: 3470

East Asian (EAS) AF: 0.883 AC: 4572 AN: 5180

South Asian (SAS) AF: 0.793 AC: 3820 AN: 4820

European-Finnish (FIN) AF: 0.728 AC: 7692 AN: 10566

Middle Eastern (MID) AF: 0.612 AC: 180 AN: 294

European-Non Finnish (NFE) AF: 0.714 AC: 48532 AN: 67956

Other (OTH) AF: 0.640 AC: 1350 AN: 2110

Alfa AF: 0.673 Hom.: 67185

Bravo AF: 0.588

Asia WGS AF: 0.810 AC: 2813 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	5.9
DANN	Benign	0.83
PhyloP100		0.57

Splicing

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

Other links and lift over

dbSNP: rs181224; hg19: chr17-56191008;