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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.363

Gnomad4 AMR AF: 0.446

Gnomad4 ASJ AF: 0.371

Gnomad4 EAS AF: 0.393

Gnomad4 SAS AF: 0.514

Gnomad4 FIN AF: 0.416

Gnomad4 NFE AF: 0.444

Gnomad4 OTH AF: 0.406

Alfa AF: 0.439 Hom.: 3046

Bravo AF: 0.414

Asia WGS AF: 0.492 AC: 1709 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs33855; hg19: chr5-171192037;