chr8-18233891-T-C

Variant names:

• chr8-18233891-T-C
• rs4921585

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 0.553 in 151,996 control chromosomes in the GnomAD database, including 23,336 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 0.55 (23336 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.928
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.571 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: 0.553 AC: 84025 AN: 151878 Hom.: 23294 Cov.: 32

Gnomad AFR AF: 0.577

Gnomad AMI AF: 0.426

Gnomad AMR AF: 0.525

Gnomad ASJ AF: 0.588

Gnomad EAS AF: 0.496

Gnomad SAS AF: 0.527

Gnomad FIN AF: 0.493

Gnomad MID AF: 0.598

Gnomad NFE AF: 0.561

Gnomad OTH AF: 0.541

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

GnomAD4 genome AF: 0.553 AC: 84124 AN: 151996 Hom.: 23336 Cov.: 32 AF XY: 0.549 AC XY: 40766 AN XY: 74306

African (AFR) AF: 0.578 AC: 23936 AN: 41442

American (AMR) AF: 0.525 AC: 8022 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.588 AC: 2041 AN: 3472

East Asian (EAS) AF: 0.496 AC: 2561 AN: 5162

South Asian (SAS) AF: 0.529 AC: 2549 AN: 4822

European-Finnish (FIN) AF: 0.493 AC: 5208 AN: 10558

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

European-Non Finnish (NFE) AF: 0.561 AC: 38098 AN: 67958

Other (OTH) AF: 0.544 AC: 1145 AN: 2106

Alfa AF: 0.556 Hom.: 2895

Bravo AF: 0.555

Asia WGS AF: 0.496 AC: 1725 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.95
DANN	Benign	0.77
PhyloP100		-0.93

Splicing

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

Other links and lift over

dbSNP: rs4921585; hg19: chr8-18091400;