8-18410163-G-T

Variant names:

• chr8-18410163-G-T
• rs6988857

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 0.277 in 151,936 control chromosomes in the GnomAD database, including 6,011 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 0.28 (6011 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.62
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.335 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.277 AC: 42080 AN: 151818 Hom.: 6015 Cov.: 32

Gnomad AFR AF: 0.261

Gnomad AMI AF: 0.354

Gnomad AMR AF: 0.210

Gnomad ASJ AF: 0.360

Gnomad EAS AF: 0.202

Gnomad SAS AF: 0.351

Gnomad FIN AF: 0.245

Gnomad MID AF: 0.282

Gnomad NFE AF: 0.302

Gnomad OTH AF: 0.276

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

GnomAD4 genome AF: 0.277 AC: 42077 AN: 151936 Hom.: 6011 Cov.: 32 AF XY: 0.273 AC XY: 20298 AN XY: 74276

African (AFR) AF: 0.261 AC: 10811 AN: 41426

American (AMR) AF: 0.210 AC: 3202 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.360 AC: 1247 AN: 3464

East Asian (EAS) AF: 0.203 AC: 1049 AN: 5166

South Asian (SAS) AF: 0.349 AC: 1685 AN: 4824

European-Finnish (FIN) AF: 0.245 AC: 2588 AN: 10544

Middle Eastern (MID) AF: 0.276 AC: 81 AN: 294

European-Non Finnish (NFE) AF: 0.302 AC: 20516 AN: 67938

Other (OTH) AF: 0.273 AC: 577 AN: 2110

Alfa AF: 0.159 Hom.: 291

Bravo AF: 0.267

Asia WGS AF: 0.291 AC: 1013 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.86
DANN	Benign	0.44
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs6988857; hg19: chr8-18267673;