rs9910453

Variant names:

• chr17-11027663-C-A
• rs9910453

Your query was ambiguous. Multiple possible variants found:

• chr17-11027663-C-A
• chr17-11027663-C-G
• chr17-11027663-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 0.924 in 152,238 control chromosomes in the GnomAD database, including 65,109 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 0.92 (65109 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.194

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.975 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: 0.924 AC: 140576 AN: 152120 Hom.: 65053 Cov.: 32

Gnomad AFR AF: 0.968

Gnomad AMI AF: 0.854

Gnomad AMR AF: 0.934

Gnomad ASJ AF: 0.884

Gnomad EAS AF: 0.998

Gnomad SAS AF: 0.855

Gnomad FIN AF: 0.922

Gnomad MID AF: 0.839

Gnomad NFE AF: 0.899

Gnomad OTH AF: 0.906

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

GnomAD4 genome AF: 0.924 AC: 140691 AN: 152238 Hom.: 65109 Cov.: 32 AF XY: 0.925 AC XY: 68838 AN XY: 74428

Gnomad4 AFR AF: 0.968

Gnomad4 AMR AF: 0.934

Gnomad4 ASJ AF: 0.884

Gnomad4 EAS AF: 0.998

Gnomad4 SAS AF: 0.855

Gnomad4 FIN AF: 0.922

Gnomad4 NFE AF: 0.899

Gnomad4 OTH AF: 0.906

Alfa AF: 0.915 Hom.: 7973

Bravo AF: 0.929

Asia WGS AF: 0.935 AC: 3252 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	5.6
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9910453; hg19: chr17-10930980;