rs1790137

Variant names:

• chr11-107681196-C-A
• rs1790137

Your query was ambiguous. Multiple possible variants found:

• chr11-107681196-C-A
• chr11-107681196-C-G
• chr11-107681196-C-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 0.771 in 152,148 control chromosomes in the GnomAD database, including 45,863 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 0.77 (45863 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.785
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.884 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.771 AC: 117179 AN: 152030 Hom.: 45810 Cov.: 32

Gnomad AFR AF: 0.892

Gnomad AMI AF: 0.714

Gnomad AMR AF: 0.788

Gnomad ASJ AF: 0.668

Gnomad EAS AF: 0.861

Gnomad SAS AF: 0.641

Gnomad FIN AF: 0.760

Gnomad MID AF: 0.715

Gnomad NFE AF: 0.704

Gnomad OTH AF: 0.762

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

GnomAD4 genome AF: 0.771 AC: 117290 AN: 152148 Hom.: 45863 Cov.: 32 AF XY: 0.773 AC XY: 57473 AN XY: 74386

African (AFR) AF: 0.892 AC: 37053 AN: 41538

American (AMR) AF: 0.788 AC: 12042 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.668 AC: 2319 AN: 3470

East Asian (EAS) AF: 0.861 AC: 4449 AN: 5168

South Asian (SAS) AF: 0.640 AC: 3081 AN: 4812

European-Finnish (FIN) AF: 0.760 AC: 8038 AN: 10578

Middle Eastern (MID) AF: 0.714 AC: 210 AN: 294

European-Non Finnish (NFE) AF: 0.704 AC: 47834 AN: 67984

Other (OTH) AF: 0.765 AC: 1613 AN: 2108

Alfa AF: 0.721 Hom.: 21681

Bravo AF: 0.786

Asia WGS AF: 0.748 AC: 2602 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.43
DANN	Benign	0.40
PhyloP100		-0.79

Splicing

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

Other links and lift over

dbSNP: rs1790137; hg19: chr11-107551922;