11-33256373-CAGAA-CAGAAAGAA

Variant names:

• chr11-33256373-C-CAGAA
• rs2307955

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.70 (37577 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.157
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.714 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.703 AC: 106527 AN: 151468 Hom.: 37535 Cov.: 0

Gnomad AFR AF: 0.712

Gnomad AMI AF: 0.576

Gnomad AMR AF: 0.685

Gnomad ASJ AF: 0.671

Gnomad EAS AF: 0.596

Gnomad SAS AF: 0.640

Gnomad FIN AF: 0.697

Gnomad MID AF: 0.717

Gnomad NFE AF: 0.719

Gnomad OTH AF: 0.709

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

GnomAD4 genome AF: 0.703 AC: 106630 AN: 151586 Hom.: 37577 Cov.: 0 AF XY: 0.701 AC XY: 51922 AN XY: 74042

African (AFR) AF: 0.712 AC: 29405 AN: 41308

American (AMR) AF: 0.685 AC: 10431 AN: 15238

Ashkenazi Jewish (ASJ) AF: 0.671 AC: 2325 AN: 3466

East Asian (EAS) AF: 0.596 AC: 3074 AN: 5156

South Asian (SAS) AF: 0.641 AC: 3086 AN: 4816

European-Finnish (FIN) AF: 0.697 AC: 7283 AN: 10456

Middle Eastern (MID) AF: 0.709 AC: 207 AN: 292

European-Non Finnish (NFE) AF: 0.719 AC: 48796 AN: 67842

Other (OTH) AF: 0.713 AC: 1501 AN: 2106

Alfa AF: 0.724 Hom.: 4271

Asia WGS AF: 0.659 AC: 2294 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs2307955; hg19: chr11-33277919;