chr5-132673300-AGAA-AG

Variant names:

• chr5-132673300-AGA-AG
• rs34185442

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 0.53 (22908 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.885
• Publications: 1 publications found

ACMG classification

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

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.73 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: 0.534 AC: 72639 AN: 136036 Hom.: 22919 Cov.: 0

Gnomad AFR AF: 0.165

Gnomad AMI AF: 0.909

Gnomad AMR AF: 0.543

Gnomad ASJ AF: 0.632

Gnomad EAS AF: 0.184

Gnomad SAS AF: 0.638

Gnomad FIN AF: 0.545

Gnomad MID AF: 0.636

Gnomad NFE AF: 0.736

Gnomad OTH AF: 0.577

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

GnomAD4 genome AF: 0.534 AC: 72619 AN: 136044 Hom.: 22908 Cov.: 0 AF XY: 0.526 AC XY: 34306 AN XY: 65220

African (AFR) AF: 0.165 AC: 5792 AN: 35024

American (AMR) AF: 0.544 AC: 7468 AN: 13740

Ashkenazi Jewish (ASJ) AF: 0.632 AC: 2099 AN: 3322

East Asian (EAS) AF: 0.185 AC: 805 AN: 4348

South Asian (SAS) AF: 0.639 AC: 2712 AN: 4244

European-Finnish (FIN) AF: 0.545 AC: 4358 AN: 7990

Middle Eastern (MID) AF: 0.629 AC: 171 AN: 272

European-Non Finnish (NFE) AF: 0.736 AC: 47332 AN: 64340

Other (OTH) AF: 0.575 AC: 1084 AN: 1886

Alfa AF: 0.385 Hom.: 766

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.89

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: rs34185442; hg19: chr5-132008992;