rs1368850

Variant names:

• chr11-131058413-A-G
• rs1368850

Your query was ambiguous. Multiple possible variants found:

• chr11-131058413-A-G
• chr11-131058413-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 0.433 in 152,040 control chromosomes in the GnomAD database, including 14,447 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 (14447 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.52

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.508 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: 0.433 AC: 65716 AN: 151922 Hom.: 14423 Cov.: 33

Gnomad AFR AF: 0.457

Gnomad AMI AF: 0.504

Gnomad AMR AF: 0.493

Gnomad ASJ AF: 0.455

Gnomad EAS AF: 0.526

Gnomad SAS AF: 0.436

Gnomad FIN AF: 0.440

Gnomad MID AF: 0.392

Gnomad NFE AF: 0.394

Gnomad OTH AF: 0.418

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

GnomAD4 genome AF: 0.433 AC: 65789 AN: 152040 Hom.: 14447 Cov.: 33 AF XY: 0.436 AC XY: 32383 AN XY: 74320

Gnomad4 AFR AF: 0.457

Gnomad4 AMR AF: 0.494

Gnomad4 ASJ AF: 0.455

Gnomad4 EAS AF: 0.525

Gnomad4 SAS AF: 0.435

Gnomad4 FIN AF: 0.440

Gnomad4 NFE AF: 0.394

Gnomad4 OTH AF: 0.423

Alfa AF: 0.402 Hom.: 1531

Bravo AF: 0.435

Asia WGS AF: 0.511 AC: 1775 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	11
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: rs1368850; hg19: chr11-130928308;