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. The variant received -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
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.827 AC: 34307 AN: 41506

American (AMR) AF: 0.858 AC: 13121 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.785 AC: 2727 AN: 3472

East Asian (EAS) AF: 0.843 AC: 4348 AN: 5158

South Asian (SAS) AF: 0.855 AC: 4123 AN: 4824

European-Finnish (FIN) AF: 0.933 AC: 9892 AN: 10600

Middle Eastern (MID) AF: 0.905 AC: 266 AN: 294

European-Non Finnish (NFE) AF: 0.885 AC: 60229 AN: 68020

Other (OTH) AF: 0.863 AC: 1823 AN: 2112

Alfa AF: 0.875 Hom.: 248435

Bravo AF: 0.857

Asia WGS AF: 0.864 AC: 3006 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	5.4
DANN	Benign	0.75
PhyloP100		0.35

Splicing

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

Other links and lift over

dbSNP: rs896010; hg19: chr8-83984810;