8-9549072-C-T

Variant names:

• chr8-9549072-C-T
• rs11991621

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 0.18 in 152,086 control chromosomes in the GnomAD database, including 2,678 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 0.18 (2678 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.93
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.247 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.180 AC: 27325 AN: 151968 Hom.: 2663 Cov.: 33

Gnomad AFR AF: 0.187

Gnomad AMI AF: 0.188

Gnomad AMR AF: 0.106

Gnomad ASJ AF: 0.0950

Gnomad EAS AF: 0.258

Gnomad SAS AF: 0.135

Gnomad FIN AF: 0.304

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.175

Gnomad OTH AF: 0.155

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

GnomAD4 genome AF: 0.180 AC: 27369 AN: 152086 Hom.: 2678 Cov.: 33 AF XY: 0.182 AC XY: 13541 AN XY: 74318

African (AFR) AF: 0.188 AC: 7787 AN: 41492

American (AMR) AF: 0.106 AC: 1624 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.0950 AC: 330 AN: 3472

East Asian (EAS) AF: 0.258 AC: 1333 AN: 5166

South Asian (SAS) AF: 0.135 AC: 649 AN: 4822

European-Finnish (FIN) AF: 0.304 AC: 3196 AN: 10526

Middle Eastern (MID) AF: 0.126 AC: 37 AN: 294

European-Non Finnish (NFE) AF: 0.175 AC: 11916 AN: 68002

Other (OTH) AF: 0.154 AC: 326 AN: 2114

Alfa AF: 0.158 Hom.: 1784

Bravo AF: 0.169

Asia WGS AF: 0.183 AC: 636 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	0.43
DANN	Benign	0.42
PhyloP100		-1.9

Splicing

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

Other links and lift over

dbSNP: rs11991621; hg19: chr8-9406582;