5-132673301-GAAAA-GAAAAA

Variant names:

• chr5-132673301-G-GA
• 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 0.065 (796 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 (AFR) allele frequency at 95% confidence interval = 0.214 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: 0.0648 AC: 8811 AN: 136008 Hom.: 792 Cov.: 0

Gnomad AFR AF: 0.218

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0308

Gnomad ASJ AF: 0.00210

Gnomad EAS AF: 0.00114

Gnomad SAS AF: 0.00725

Gnomad FIN AF: 0.0100

Gnomad MID AF: 0.0272

Gnomad NFE AF: 0.00848

Gnomad OTH AF: 0.0535

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

GnomAD4 genome AF: 0.0649 AC: 8829 AN: 136016 Hom.: 796 Cov.: 0 AF XY: 0.0636 AC XY: 4145 AN XY: 65200

African (AFR) AF: 0.218 AC: 7627 AN: 34998

American (AMR) AF: 0.0308 AC: 423 AN: 13744

Ashkenazi Jewish (ASJ) AF: 0.00210 AC: 7 AN: 3330

East Asian (EAS) AF: 0.00115 AC: 5 AN: 4346

South Asian (SAS) AF: 0.00729 AC: 31 AN: 4250

European-Finnish (FIN) AF: 0.0100 AC: 80 AN: 7964

Middle Eastern (MID) AF: 0.0294 AC: 8 AN: 272

European-Non Finnish (NFE) AF: 0.00849 AC: 546 AN: 64346

Other (OTH) AF: 0.0540 AC: 102 AN: 1888

Alfa AF: 0.00395 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

Other links and lift over

dbSNP: rs34185442; hg19: chr5-132008993;