rs2055729

Variant names:

• chr8-9935152-G-A
• rs2055729

Your query was ambiguous. Multiple possible variants found:

• chr8-9935152-G-A
• chr8-9935152-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 0.548 in 151,962 control chromosomes in the GnomAD database, including 24,910 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 0.55 (24910 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.138

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.663 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: 0.548 AC: 83243 AN: 151848 Hom.: 24901 Cov.: 31

Gnomad AFR AF: 0.300

Gnomad AMI AF: 0.727

Gnomad AMR AF: 0.637

Gnomad ASJ AF: 0.732

Gnomad EAS AF: 0.390

Gnomad SAS AF: 0.673

Gnomad FIN AF: 0.544

Gnomad MID AF: 0.706

Gnomad NFE AF: 0.668

Gnomad OTH AF: 0.617

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

GnomAD4 genome AF: 0.548 AC: 83255 AN: 151962 Hom.: 24910 Cov.: 31 AF XY: 0.547 AC XY: 40659 AN XY: 74274

Gnomad4 AFR AF: 0.299

Gnomad4 AMR AF: 0.638

Gnomad4 ASJ AF: 0.732

Gnomad4 EAS AF: 0.390

Gnomad4 SAS AF: 0.674

Gnomad4 FIN AF: 0.544

Gnomad4 NFE AF: 0.668

Gnomad4 OTH AF: 0.609

Alfa AF: 0.641 Hom.: 27251

Bravo AF: 0.539

Asia WGS AF: 0.511 AC: 1776 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.42
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: rs2055729; hg19: chr8-9792662;