rs17091290

Variant names:

• chr14-94692019-T-A
• rs17091290

Your query was ambiguous. Multiple possible variants found:

• chr14-94692019-T-A
• chr14-94692019-T-C

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 0.0387 in 152,328 control chromosomes in the GnomAD database, including 429 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 0.039 (429 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.825

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.329 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: 0.0387 AC: 5890 AN: 152210 Hom.: 430 Cov.: 32

Gnomad AFR AF: 0.0691

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0168

Gnomad ASJ AF: 0.0124

Gnomad EAS AF: 0.342

Gnomad SAS AF: 0.102

Gnomad FIN AF: 0.00838

Gnomad MID AF: 0.00633

Gnomad NFE AF: 0.00448

Gnomad OTH AF: 0.0311

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

GnomAD4 genome AF: 0.0387 AC: 5889 AN: 152328 Hom.: 429 Cov.: 32 AF XY: 0.0409 AC XY: 3050 AN XY: 74486

Gnomad4 AFR AF: 0.0689

Gnomad4 AMR AF: 0.0167

Gnomad4 ASJ AF: 0.0124

Gnomad4 EAS AF: 0.342

Gnomad4 SAS AF: 0.102

Gnomad4 FIN AF: 0.00838

Gnomad4 NFE AF: 0.00448

Gnomad4 OTH AF: 0.0322

Alfa AF: 0.0231 Hom.: 14

Bravo AF: 0.0407

Asia WGS AF: 0.201 AC: 695 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.3
DANN	Benign	0.80

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17091290; hg19: chr14-95158356;