rs9927848

Variant names:

• chr16-23821750-C-A
• rs9927848

Your query was ambiguous. Multiple possible variants found:

• chr16-23821750-C-A
• chr16-23821750-C-G
• chr16-23821750-C-T

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 0.655 in 151,886 control chromosomes in the GnomAD database, including 34,101 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 0.66 (34101 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.221

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.731 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.656 AC: 99516 AN: 151766 Hom.: 34106 Cov.: 30

Gnomad AFR AF: 0.431

Gnomad AMI AF: 0.752

Gnomad AMR AF: 0.739

Gnomad ASJ AF: 0.681

Gnomad EAS AF: 0.744

Gnomad SAS AF: 0.700

Gnomad FIN AF: 0.812

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.736

Gnomad OTH AF: 0.681

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

GnomAD4 genome AF: 0.655 AC: 99536 AN: 151886 Hom.: 34101 Cov.: 30 AF XY: 0.661 AC XY: 49121 AN XY: 74268

Gnomad4 AFR AF: 0.430

Gnomad4 AMR AF: 0.738

Gnomad4 ASJ AF: 0.681

Gnomad4 EAS AF: 0.744

Gnomad4 SAS AF: 0.698

Gnomad4 FIN AF: 0.812

Gnomad4 NFE AF: 0.736

Gnomad4 OTH AF: 0.683

Alfa AF: 0.722 Hom.: 52489

Bravo AF: 0.637

Asia WGS AF: 0.710 AC: 2467 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.6
DANN	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9927848; hg19: chr16-23833071;