rs16914980

chr8-92436528-T-Cchr8-92436528-T-G

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

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

Gnomad4 AFR AF: 0.0749

Gnomad4 AMR AF: 0.211

Gnomad4 ASJ AF: 0.222

Gnomad4 EAS AF: 0.295

Gnomad4 SAS AF: 0.270

Gnomad4 FIN AF: 0.303

Gnomad4 NFE AF: 0.256

Gnomad4 OTH AF: 0.214

Alfa AF: 0.245 Hom.: 8057

Bravo AF: 0.190

Asia WGS AF: 0.256 AC: 887 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.50
Cadd	Benign	11
Dann	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs16914980; hg19: chr8-93448756;