rs17205291

Variant names:

• chr1-233412585-C-G
• rs17205291

Your query was ambiguous. Multiple possible variants found:

• chr1-233412585-C-G
• chr1-233412585-C-T

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 0.163 in 152,164 control chromosomes in the GnomAD database, including 2,163 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 0.16 (2163 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.67
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.185 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: 0.163 AC: 24823 AN: 152046 Hom.: 2161 Cov.: 33

Gnomad AFR AF: 0.188

Gnomad AMI AF: 0.153

Gnomad AMR AF: 0.106

Gnomad ASJ AF: 0.147

Gnomad EAS AF: 0.0422

Gnomad SAS AF: 0.135

Gnomad FIN AF: 0.241

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.161

Gnomad OTH AF: 0.161

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

GnomAD4 genome AF: 0.163 AC: 24837 AN: 152164 Hom.: 2163 Cov.: 33 AF XY: 0.164 AC XY: 12224 AN XY: 74384

African (AFR) AF: 0.188 AC: 7807 AN: 41508

American (AMR) AF: 0.106 AC: 1623 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.147 AC: 509 AN: 3470

East Asian (EAS) AF: 0.0419 AC: 217 AN: 5180

South Asian (SAS) AF: 0.135 AC: 651 AN: 4824

European-Finnish (FIN) AF: 0.241 AC: 2550 AN: 10564

Middle Eastern (MID) AF: 0.170 AC: 50 AN: 294

European-Non Finnish (NFE) AF: 0.161 AC: 10955 AN: 68008

Other (OTH) AF: 0.159 AC: 336 AN: 2110

Alfa AF: 0.152 Hom.: 224

Bravo AF: 0.154

Asia WGS AF: 0.100 AC: 347 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	7.8
DANN	Benign	0.37
PhyloP100		1.7

Splicing

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

Other links and lift over

dbSNP: rs17205291; hg19: chr1-233548331;