chr8-92436528-T-C

Variant names:

• chr8-92436528-T-C
• rs16914980

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 0.206 in 152,122 control chromosomes in the GnomAD database, including 3,840 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 0.21 (3840 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.791
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.5).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.283 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: 0.206 AC: 31373 AN: 152004 Hom.: 3842 Cov.: 32

Gnomad AFR AF: 0.0749

Gnomad AMI AF: 0.331

Gnomad AMR AF: 0.211

Gnomad ASJ AF: 0.222

Gnomad EAS AF: 0.296

Gnomad SAS AF: 0.269

Gnomad FIN AF: 0.303

Gnomad MID AF: 0.247

Gnomad NFE AF: 0.256

Gnomad OTH AF: 0.214

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

GnomAD4 genome AF: 0.206 AC: 31370 AN: 152122 Hom.: 3840 Cov.: 32 AF XY: 0.210 AC XY: 15648 AN XY: 74368

African (AFR) AF: 0.0749 AC: 3110 AN: 41538

American (AMR) AF: 0.211 AC: 3225 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.222 AC: 770 AN: 3468

East Asian (EAS) AF: 0.295 AC: 1524 AN: 5158

South Asian (SAS) AF: 0.270 AC: 1302 AN: 4820

European-Finnish (FIN) AF: 0.303 AC: 3204 AN: 10578

Middle Eastern (MID) AF: 0.238 AC: 70 AN: 294

European-Non Finnish (NFE) AF: 0.256 AC: 17412 AN: 67962

Other (OTH) AF: 0.214 AC: 451 AN: 2112

Alfa AF: 0.232 Hom.: 12070

Bravo AF: 0.190

Asia WGS AF: 0.256 AC: 887 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.50
CADD	Benign	11
DANN	Benign	0.67
PhyloP100		0.79

Splicing

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

Other links and lift over

dbSNP: rs16914980; hg19: chr8-93448756;