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. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.457 AC: 18964 AN: 41468

American (AMR) AF: 0.494 AC: 7546 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.455 AC: 1579 AN: 3470

East Asian (EAS) AF: 0.525 AC: 2705 AN: 5156

South Asian (SAS) AF: 0.435 AC: 2093 AN: 4810

European-Finnish (FIN) AF: 0.440 AC: 4649 AN: 10568

Middle Eastern (MID) AF: 0.398 AC: 117 AN: 294

European-Non Finnish (NFE) AF: 0.394 AC: 26785 AN: 67970

Other (OTH) AF: 0.423 AC: 891 AN: 2108

Alfa AF: 0.403 Hom.: 1602

Bravo AF: 0.435

Asia WGS AF: 0.511 AC: 1775 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	11
DANN	Benign	0.65
PhyloP100		2.5

Splicing

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

Other links and lift over

dbSNP: rs1368850; hg19: chr11-130928308;