rs17468071

Variant names:

• chr9-23679838-T-C
• rs17468071

Your query was ambiguous. Multiple possible variants found:

• chr9-23679838-T-C
• chr9-23679838-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 0.0924 in 152,154 control chromosomes in the GnomAD database, including 732 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 0.092 (732 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.154

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.108 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: 0.0924 AC: 14052 AN: 152036 Hom.: 731 Cov.: 32

Gnomad AFR AF: 0.0962

Gnomad AMI AF: 0.0835

Gnomad AMR AF: 0.0652

Gnomad ASJ AF: 0.0625

Gnomad EAS AF: 0.000386

Gnomad SAS AF: 0.0257

Gnomad FIN AF: 0.0903

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.110

Gnomad OTH AF: 0.0869

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

GnomAD4 genome AF: 0.0924 AC: 14060 AN: 152154 Hom.: 732 Cov.: 32 AF XY: 0.0900 AC XY: 6697 AN XY: 74370

Gnomad4 AFR AF: 0.0961

Gnomad4 AMR AF: 0.0650

Gnomad4 ASJ AF: 0.0625

Gnomad4 EAS AF: 0.000387

Gnomad4 SAS AF: 0.0260

Gnomad4 FIN AF: 0.0903

Gnomad4 NFE AF: 0.110

Gnomad4 OTH AF: 0.0860

Alfa AF: 0.0965 Hom.: 1093

Bravo AF: 0.0924

Asia WGS AF: 0.0250 AC: 85 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	3.6
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17468071; hg19: chr9-23679836;