chr8-100886295-G-C

Variant names:

• chr8-100886295-G-C
• rs884488

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 0.298 in 152,020 control chromosomes in the GnomAD database, including 6,933 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 0.30 (6933 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.614
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.318 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: 0.297 AC: 45185 AN: 151902 Hom.: 6902 Cov.: 32

Gnomad AFR AF: 0.321

Gnomad AMI AF: 0.411

Gnomad AMR AF: 0.267

Gnomad ASJ AF: 0.296

Gnomad EAS AF: 0.191

Gnomad SAS AF: 0.287

Gnomad FIN AF: 0.256

Gnomad MID AF: 0.358

Gnomad NFE AF: 0.304

Gnomad OTH AF: 0.287

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

GnomAD4 genome AF: 0.298 AC: 45256 AN: 152020 Hom.: 6933 Cov.: 32 AF XY: 0.293 AC XY: 21781 AN XY: 74294

African (AFR) AF: 0.322 AC: 13352 AN: 41438

American (AMR) AF: 0.267 AC: 4081 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.296 AC: 1025 AN: 3466

East Asian (EAS) AF: 0.192 AC: 994 AN: 5174

South Asian (SAS) AF: 0.288 AC: 1387 AN: 4818

European-Finnish (FIN) AF: 0.256 AC: 2706 AN: 10562

Middle Eastern (MID) AF: 0.350 AC: 103 AN: 294

European-Non Finnish (NFE) AF: 0.304 AC: 20637 AN: 67958

Other (OTH) AF: 0.283 AC: 597 AN: 2110

Alfa AF: 0.305 Hom.: 861

Bravo AF: 0.300

Asia WGS AF: 0.235 AC: 817 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.92
DANN	Benign	0.73
PhyloP100		-0.61

Splicing

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

Other links and lift over

dbSNP: rs884488; hg19: chr8-101898523;