rs11918665

Variant names:

• chr3-186495995-A-G
• rs11918665

Your query was ambiguous. Multiple possible variants found:

• chr3-186495995-A-G
• chr3-186495995-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 0.904 in 152,330 control chromosomes in the GnomAD database, including 62,374 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 0.90 (62374 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.158

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 (AFR) allele frequency at 95% confidence interval = 0.965 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: 0.904 AC: 137533 AN: 152212 Hom.: 62317 Cov.: 33

Gnomad AFR AF: 0.972

Gnomad AMI AF: 0.930

Gnomad AMR AF: 0.898

Gnomad ASJ AF: 0.866

Gnomad EAS AF: 0.947

Gnomad SAS AF: 0.863

Gnomad FIN AF: 0.884

Gnomad MID AF: 0.927

Gnomad NFE AF: 0.867

Gnomad OTH AF: 0.895

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

GnomAD4 genome AF: 0.904 AC: 137649 AN: 152330 Hom.: 62374 Cov.: 33 AF XY: 0.905 AC XY: 67383 AN XY: 74470

Gnomad4 AFR AF: 0.973

Gnomad4 AMR AF: 0.898

Gnomad4 ASJ AF: 0.866

Gnomad4 EAS AF: 0.946

Gnomad4 SAS AF: 0.863

Gnomad4 FIN AF: 0.884

Gnomad4 NFE AF: 0.867

Gnomad4 OTH AF: 0.895

Alfa AF: 0.874 Hom.: 73820

Bravo AF: 0.910

Asia WGS AF: 0.920 AC: 3201 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	3.5
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11918665; hg19: chr3-186213784;