rs33855

Variant names:

• chr5-171765033-G-A
• rs33855

Your query was ambiguous. Multiple possible variants found:

• chr5-171765033-G-A
• chr5-171765033-G-C

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 0.42 in 152,106 control chromosomes in the GnomAD database, including 13,475 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 0.42 (13475 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.190
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.498 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: 0.420 AC: 63826 AN: 151988 Hom.: 13459 Cov.: 33

Gnomad AFR AF: 0.363

Gnomad AMI AF: 0.633

Gnomad AMR AF: 0.446

Gnomad ASJ AF: 0.371

Gnomad EAS AF: 0.393

Gnomad SAS AF: 0.517

Gnomad FIN AF: 0.416

Gnomad MID AF: 0.446

Gnomad NFE AF: 0.444

Gnomad OTH AF: 0.404

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

GnomAD4 genome AF: 0.420 AC: 63870 AN: 152106 Hom.: 13475 Cov.: 33 AF XY: 0.419 AC XY: 31151 AN XY: 74346

African (AFR) AF: 0.363 AC: 15070 AN: 41482

American (AMR) AF: 0.446 AC: 6831 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.371 AC: 1287 AN: 3470

East Asian (EAS) AF: 0.393 AC: 2031 AN: 5174

South Asian (SAS) AF: 0.514 AC: 2484 AN: 4828

European-Finnish (FIN) AF: 0.416 AC: 4389 AN: 10556

Middle Eastern (MID) AF: 0.449 AC: 132 AN: 294

European-Non Finnish (NFE) AF: 0.444 AC: 30214 AN: 67982

Other (OTH) AF: 0.406 AC: 856 AN: 2110

Alfa AF: 0.430 Hom.: 5328

Bravo AF: 0.414

Asia WGS AF: 0.492 AC: 1709 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.4
DANN	Benign	0.27
PhyloP100		-0.19

Splicing

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

Other links and lift over

dbSNP: rs33855; hg19: chr5-171192037;