rs9494193

Variant names:

• chr6-135262485-A-C
• rs9494193

Your query was ambiguous. Multiple possible variants found:

• chr6-135262485-A-C
• chr6-135262485-A-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 0.463 in 152,076 control chromosomes in the GnomAD database, including 18,947 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 0.46 (18947 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.746 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: 0.462 AC: 70248 AN: 151956 Hom.: 18911 Cov.: 32

Gnomad AFR AF: 0.752

Gnomad AMI AF: 0.175

Gnomad AMR AF: 0.331

Gnomad ASJ AF: 0.343

Gnomad EAS AF: 0.341

Gnomad SAS AF: 0.415

Gnomad FIN AF: 0.337

Gnomad MID AF: 0.316

Gnomad NFE AF: 0.359

Gnomad OTH AF: 0.423

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

GnomAD4 genome AF: 0.463 AC: 70348 AN: 152076 Hom.: 18947 Cov.: 32 AF XY: 0.459 AC XY: 34153 AN XY: 74330

Gnomad4 AFR AF: 0.753

Gnomad4 AMR AF: 0.331

Gnomad4 ASJ AF: 0.343

Gnomad4 EAS AF: 0.341

Gnomad4 SAS AF: 0.415

Gnomad4 FIN AF: 0.337

Gnomad4 NFE AF: 0.359

Gnomad4 OTH AF: 0.423

Alfa AF: 0.322 Hom.: 1804

Bravo AF: 0.470

Asia WGS AF: 0.412 AC: 1431 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.041
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9494193; hg19: chr6-135583623;