8-18405974-T-C

Variant names:

• chr8-18405974-T-C
• rs2410558

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 0.649 in 150,352 control chromosomes in the GnomAD database, including 32,603 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 0.65 (32603 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.656
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.718 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: 0.649 AC: 97546 AN: 150248 Hom.: 32601 Cov.: 26

Gnomad AFR AF: 0.575

Gnomad AMI AF: 0.680

Gnomad AMR AF: 0.555

Gnomad ASJ AF: 0.801

Gnomad EAS AF: 0.298

Gnomad SAS AF: 0.699

Gnomad FIN AF: 0.688

Gnomad MID AF: 0.726

Gnomad NFE AF: 0.723

Gnomad OTH AF: 0.665

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

GnomAD4 genome AF: 0.649 AC: 97581 AN: 150352 Hom.: 32603 Cov.: 26 AF XY: 0.644 AC XY: 47171 AN XY: 73296

African (AFR) AF: 0.575 AC: 23496 AN: 40840

American (AMR) AF: 0.555 AC: 8382 AN: 15102

Ashkenazi Jewish (ASJ) AF: 0.801 AC: 2771 AN: 3460

East Asian (EAS) AF: 0.299 AC: 1537 AN: 5134

South Asian (SAS) AF: 0.698 AC: 3312 AN: 4744

European-Finnish (FIN) AF: 0.688 AC: 6937 AN: 10084

Middle Eastern (MID) AF: 0.726 AC: 209 AN: 288

European-Non Finnish (NFE) AF: 0.723 AC: 48945 AN: 67706

Other (OTH) AF: 0.659 AC: 1375 AN: 2086

Alfa AF: 0.696 Hom.: 51470

Bravo AF: 0.629

Asia WGS AF: 0.519 AC: 1805 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	2.6
DANN	Benign	0.23
PhyloP100		-0.66

Splicing

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

Other links and lift over

dbSNP: rs2410558; hg19: chr8-18263484;