rs3176921

Variant names:

• chr8-66179144-A-G
• rs3176921

Your query was ambiguous. Multiple possible variants found:

• chr8-66179144-A-G
• chr8-66179144-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.234 in 152,130 control chromosomes in the GnomAD database, including 8,406 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 0.23 (8406 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.340

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.603 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.233 AC: 35494 AN: 152012 Hom.: 8374 Cov.: 32

Gnomad AFR AF: 0.609

Gnomad AMI AF: 0.0636

Gnomad AMR AF: 0.123

Gnomad ASJ AF: 0.0732

Gnomad EAS AF: 0.000578

Gnomad SAS AF: 0.0329

Gnomad FIN AF: 0.0961

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0958

Gnomad OTH AF: 0.191

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

GnomAD4 genome AF: 0.234 AC: 35579 AN: 152130 Hom.: 8406 Cov.: 32 AF XY: 0.227 AC XY: 16919 AN XY: 74390

Gnomad4 AFR AF: 0.610

Gnomad4 AMR AF: 0.123

Gnomad4 ASJ AF: 0.0732

Gnomad4 EAS AF: 0.000579

Gnomad4 SAS AF: 0.0332

Gnomad4 FIN AF: 0.0961

Gnomad4 NFE AF: 0.0958

Gnomad4 OTH AF: 0.189

Alfa AF: 0.115 Hom.: 1930

Bravo AF: 0.250

Asia WGS AF: 0.0590 AC: 209 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	8.9
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3176921; hg19: chr8-67091379;