rs3814758

Variant names:

• chr11-119347108-A-G
• rs3814758

Your query was ambiguous. Multiple possible variants found:

• chr11-119347108-A-G
• chr11-119347108-A-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 0.589 in 152,032 control chromosomes in the GnomAD database, including 26,504 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 0.59 (26504 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.476

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.7).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.721 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: 0.589 AC: 89416 AN: 151912 Hom.: 26475 Cov.: 32

Gnomad AFR AF: 0.566

Gnomad AMI AF: 0.712

Gnomad AMR AF: 0.584

Gnomad ASJ AF: 0.574

Gnomad EAS AF: 0.740

Gnomad SAS AF: 0.676

Gnomad FIN AF: 0.543

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.591

Gnomad OTH AF: 0.611

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

GnomAD4 genome AF: 0.589 AC: 89491 AN: 152032 Hom.: 26504 Cov.: 32 AF XY: 0.591 AC XY: 43933 AN XY: 74304

Gnomad4 AFR AF: 0.566

Gnomad4 AMR AF: 0.585

Gnomad4 ASJ AF: 0.574

Gnomad4 EAS AF: 0.740

Gnomad4 SAS AF: 0.676

Gnomad4 FIN AF: 0.543

Gnomad4 NFE AF: 0.591

Gnomad4 OTH AF: 0.612

Alfa AF: 0.584 Hom.: 3852

Bravo AF: 0.594

Asia WGS AF: 0.718 AC: 2496 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.70
CADD	Benign	3.7
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3814758; hg19: chr11-119217818;