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. The variant received -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
• Publications: 24 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.887 AC: 36832 AN: 41514

American (AMR) AF: 0.518 AC: 7906 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.570 AC: 1973 AN: 3464

East Asian (EAS) AF: 0.338 AC: 1744 AN: 5158

South Asian (SAS) AF: 0.426 AC: 2051 AN: 4812

European-Finnish (FIN) AF: 0.565 AC: 5962 AN: 10548

Middle Eastern (MID) AF: 0.534 AC: 157 AN: 294

European-Non Finnish (NFE) AF: 0.547 AC: 37173 AN: 67984

Other (OTH) AF: 0.585 AC: 1234 AN: 2108

Alfa AF: 0.538 Hom.: 10391

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
PhyloP100		-0.60

Splicing

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

Other links and lift over

dbSNP: rs894210; hg19: chr8-19865843;