rs11073059

Variant names:

• chr15-34697473-T-A
• rs11073059

Your query was ambiguous. Multiple possible variants found:

• chr15-34697473-T-A
• chr15-34697473-T-C
• chr15-34697473-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 0.408 in 152,050 control chromosomes in the GnomAD database, including 12,826 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 0.41 (12826 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.860

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.571 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: 0.408 AC: 62058 AN: 151932 Hom.: 12822 Cov.: 33

Gnomad AFR AF: 0.378

Gnomad AMI AF: 0.652

Gnomad AMR AF: 0.373

Gnomad ASJ AF: 0.344

Gnomad EAS AF: 0.440

Gnomad SAS AF: 0.590

Gnomad FIN AF: 0.347

Gnomad MID AF: 0.291

Gnomad NFE AF: 0.430

Gnomad OTH AF: 0.403

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

GnomAD4 genome AF: 0.408 AC: 62093 AN: 152050 Hom.: 12826 Cov.: 33 AF XY: 0.407 AC XY: 30243 AN XY: 74336

Gnomad4 AFR AF: 0.378

Gnomad4 AMR AF: 0.373

Gnomad4 ASJ AF: 0.344

Gnomad4 EAS AF: 0.440

Gnomad4 SAS AF: 0.589

Gnomad4 FIN AF: 0.347

Gnomad4 NFE AF: 0.430

Gnomad4 OTH AF: 0.405

Alfa AF: 0.405 Hom.: 1569

Bravo AF: 0.405

Asia WGS AF: 0.515 AC: 1792 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.65
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11073059; hg19: chr15-34989674;