chr8-133864122-C-G

Variant names:

• chr8-133864122-C-G
• rs4897695

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 0.0806 in 152,234 control chromosomes in the GnomAD database, including 483 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 0.081 (483 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0320
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0866 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: 0.0805 AC: 12245 AN: 152116 Hom.: 482 Cov.: 32

Gnomad AFR AF: 0.0888

Gnomad AMI AF: 0.0800

Gnomad AMR AF: 0.0705

Gnomad ASJ AF: 0.0810

Gnomad EAS AF: 0.0472

Gnomad SAS AF: 0.0768

Gnomad FIN AF: 0.0624

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0830

Gnomad OTH AF: 0.0861

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

GnomAD4 genome AF: 0.0806 AC: 12263 AN: 152234 Hom.: 483 Cov.: 32 AF XY: 0.0799 AC XY: 5946 AN XY: 74442

African (AFR) AF: 0.0890 AC: 3698 AN: 41536

American (AMR) AF: 0.0704 AC: 1076 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.0810 AC: 281 AN: 3470

East Asian (EAS) AF: 0.0471 AC: 244 AN: 5180

South Asian (SAS) AF: 0.0771 AC: 372 AN: 4828

European-Finnish (FIN) AF: 0.0624 AC: 662 AN: 10606

Middle Eastern (MID) AF: 0.0986 AC: 29 AN: 294

European-Non Finnish (NFE) AF: 0.0831 AC: 5649 AN: 68014

Other (OTH) AF: 0.0848 AC: 179 AN: 2112

Alfa AF: 0.0834 Hom.: 63

Bravo AF: 0.0824

Asia WGS AF: 0.0530 AC: 184 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	1.8
DANN	Benign	0.59
PhyloP100		-0.032

Splicing

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

Other links and lift over

dbSNP: rs4897695; hg19: chr8-134876365;