rs896010

Variant names:

• chr8-83072575-A-G
• rs896010

Your query was ambiguous. Multiple possible variants found:

• chr8-83072575-A-G
• chr8-83072575-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 0.865 in 152,182 control chromosomes in the GnomAD database, including 57,046 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 0.86 (57046 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.347

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) 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: 0.865 AC: 131497 AN: 152064 Hom.: 57004 Cov.: 32

Gnomad AFR AF: 0.827

Gnomad AMI AF: 0.833

Gnomad AMR AF: 0.858

Gnomad ASJ AF: 0.785

Gnomad EAS AF: 0.844

Gnomad SAS AF: 0.854

Gnomad FIN AF: 0.933

Gnomad MID AF: 0.892

Gnomad NFE AF: 0.885

Gnomad OTH AF: 0.863

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

GnomAD4 genome AF: 0.865 AC: 131594 AN: 152182 Hom.: 57046 Cov.: 32 AF XY: 0.866 AC XY: 64428 AN XY: 74402

Gnomad4 AFR AF: 0.827

Gnomad4 AMR AF: 0.858

Gnomad4 ASJ AF: 0.785

Gnomad4 EAS AF: 0.843

Gnomad4 SAS AF: 0.855

Gnomad4 FIN AF: 0.933

Gnomad4 NFE AF: 0.885

Gnomad4 OTH AF: 0.863

Alfa AF: 0.877 Hom.: 116857

Bravo AF: 0.857

Asia WGS AF: 0.864 AC: 3006 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	5.4
DANN	Benign	0.75

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs896010; hg19: chr8-83984810;