8-21316149-T-G

Variant names:

• chr8-21316149-T-G
• rs898249

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 0.703 in 152,156 control chromosomes in the GnomAD database, including 39,010 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 0.70 (39010 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.571
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.913 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: 0.702 AC: 106805 AN: 152038 Hom.: 38955 Cov.: 33

Gnomad AFR AF: 0.880

Gnomad AMI AF: 0.693

Gnomad AMR AF: 0.743

Gnomad ASJ AF: 0.650

Gnomad EAS AF: 0.935

Gnomad SAS AF: 0.666

Gnomad FIN AF: 0.586

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.592

Gnomad OTH AF: 0.688

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

GnomAD4 genome AF: 0.703 AC: 106919 AN: 152156 Hom.: 39010 Cov.: 33 AF XY: 0.704 AC XY: 52389 AN XY: 74364

African (AFR) AF: 0.881 AC: 36585 AN: 41548

American (AMR) AF: 0.743 AC: 11360 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.650 AC: 2256 AN: 3470

East Asian (EAS) AF: 0.935 AC: 4834 AN: 5168

South Asian (SAS) AF: 0.667 AC: 3220 AN: 4826

European-Finnish (FIN) AF: 0.586 AC: 6195 AN: 10578

Middle Eastern (MID) AF: 0.650 AC: 191 AN: 294

European-Non Finnish (NFE) AF: 0.592 AC: 40198 AN: 67958

Other (OTH) AF: 0.686 AC: 1448 AN: 2112

Alfa AF: 0.626 Hom.: 59580

Bravo AF: 0.726

Asia WGS AF: 0.796 AC: 2765 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.29
DANN	Benign	0.34
PhyloP100		-0.57

Splicing

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

Other links and lift over

dbSNP: rs898249; hg19: chr8-21173660;