rs10793396

Variant names:

• chr11-79811587-T-A
• rs10793396

Your query was ambiguous. Multiple possible variants found:

• chr11-79811587-T-A
• chr11-79811587-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 0.43 in 152,014 control chromosomes in the GnomAD database, including 14,725 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 0.43 (14725 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.343

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.489 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: 0.430 AC: 65387 AN: 151898 Hom.: 14728 Cov.: 32

Gnomad AFR AF: 0.304

Gnomad AMI AF: 0.429

Gnomad AMR AF: 0.498

Gnomad ASJ AF: 0.609

Gnomad EAS AF: 0.456

Gnomad SAS AF: 0.478

Gnomad FIN AF: 0.556

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.457

Gnomad OTH AF: 0.453

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

GnomAD4 genome AF: 0.430 AC: 65410 AN: 152014 Hom.: 14725 Cov.: 32 AF XY: 0.437 AC XY: 32492 AN XY: 74284

Gnomad4 AFR AF: 0.304

Gnomad4 AMR AF: 0.498

Gnomad4 ASJ AF: 0.609

Gnomad4 EAS AF: 0.455

Gnomad4 SAS AF: 0.477

Gnomad4 FIN AF: 0.556

Gnomad4 NFE AF: 0.457

Gnomad4 OTH AF: 0.453

Alfa AF: 0.445 Hom.: 1893

Bravo AF: 0.420

Asia WGS AF: 0.484 AC: 1685 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	4.7
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10793396; hg19: chr11-79522631;