rs946808

Variant names:

• chr9-79504995-C-A
• rs946808

Your query was ambiguous. Multiple possible variants found:

• chr9-79504995-C-A
• chr9-79504995-C-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.244 in 151,890 control chromosomes in the GnomAD database, including 8,280 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 0.24 (8280 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.39

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.3).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.588 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: 0.243 AC: 36885 AN: 151772 Hom.: 8229 Cov.: 32

Gnomad AFR AF: 0.594

Gnomad AMI AF: 0.00329

Gnomad AMR AF: 0.152

Gnomad ASJ AF: 0.154

Gnomad EAS AF: 0.0235

Gnomad SAS AF: 0.111

Gnomad FIN AF: 0.0503

Gnomad MID AF: 0.174

Gnomad NFE AF: 0.116

Gnomad OTH AF: 0.195

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

GnomAD4 genome AF: 0.244 AC: 36989 AN: 151890 Hom.: 8280 Cov.: 32 AF XY: 0.234 AC XY: 17340 AN XY: 74244

Gnomad4 AFR AF: 0.594

Gnomad4 AMR AF: 0.152

Gnomad4 ASJ AF: 0.154

Gnomad4 EAS AF: 0.0229

Gnomad4 SAS AF: 0.111

Gnomad4 FIN AF: 0.0503

Gnomad4 NFE AF: 0.116

Gnomad4 OTH AF: 0.197

Alfa AF: 0.134 Hom.: 1306

Bravo AF: 0.266

Asia WGS AF: 0.123 AC: 432 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.30
CADD	Benign	17
DANN	Benign	0.86

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs946808; hg19: chr9-82119910;