2-133813171-GA-GAA

Variant names:

• chr2-133813171-G-GA
• rs11446594

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 0.35 (9347 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.129
• Publications: 2 publications found

ACMG classification

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

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.396 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: 0.346 AC: 52169 AN: 150582 Hom.: 9344 Cov.: 0

Gnomad AFR AF: 0.401

Gnomad AMI AF: 0.430

Gnomad AMR AF: 0.277

Gnomad ASJ AF: 0.503

Gnomad EAS AF: 0.159

Gnomad SAS AF: 0.257

Gnomad FIN AF: 0.347

Gnomad MID AF: 0.405

Gnomad NFE AF: 0.339

Gnomad OTH AF: 0.360

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

GnomAD4 genome AF: 0.346 AC: 52199 AN: 150696 Hom.: 9347 Cov.: 0 AF XY: 0.344 AC XY: 25256 AN XY: 73498

African (AFR) AF: 0.401 AC: 16471 AN: 41030

American (AMR) AF: 0.277 AC: 4198 AN: 15172

Ashkenazi Jewish (ASJ) AF: 0.503 AC: 1740 AN: 3462

East Asian (EAS) AF: 0.160 AC: 820 AN: 5138

South Asian (SAS) AF: 0.256 AC: 1218 AN: 4754

European-Finnish (FIN) AF: 0.347 AC: 3546 AN: 10208

Middle Eastern (MID) AF: 0.401 AC: 118 AN: 294

European-Non Finnish (NFE) AF: 0.339 AC: 22950 AN: 67640

Other (OTH) AF: 0.358 AC: 749 AN: 2094

Alfa AF: 0.133 Hom.: 189

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.13

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs11446594; hg19: chr2-134570742;