rs894210

Variant names:

• chr8-20008332-G-A
• rs894210

Your query was ambiguous. Multiple possible variants found:

• chr8-20008332-G-A
• chr8-20008332-G-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 0.629 in 152,066 control chromosomes in the GnomAD database, including 32,337 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 0.63 (32337 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.604

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.88 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: 0.629 AC: 95547 AN: 151948 Hom.: 32284 Cov.: 32

Gnomad AFR AF: 0.887

Gnomad AMI AF: 0.677

Gnomad AMR AF: 0.518

Gnomad ASJ AF: 0.570

Gnomad EAS AF: 0.338

Gnomad SAS AF: 0.426

Gnomad FIN AF: 0.565

Gnomad MID AF: 0.532

Gnomad NFE AF: 0.547

Gnomad OTH AF: 0.589

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

GnomAD4 genome AF: 0.629 AC: 95648 AN: 152066 Hom.: 32337 Cov.: 32 AF XY: 0.621 AC XY: 46136 AN XY: 74332

Gnomad4 AFR AF: 0.887

Gnomad4 AMR AF: 0.518

Gnomad4 ASJ AF: 0.570

Gnomad4 EAS AF: 0.338

Gnomad4 SAS AF: 0.426

Gnomad4 FIN AF: 0.565

Gnomad4 NFE AF: 0.547

Gnomad4 OTH AF: 0.585

Alfa AF: 0.532 Hom.: 8910

Bravo AF: 0.636

Asia WGS AF: 0.413 AC: 1439 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	1.1
DANN	Benign	0.17

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs894210; hg19: chr8-19865843;