rs17771257

Variant names:

• chr5-10810477-C-A
• rs17771257

Your query was ambiguous. Multiple possible variants found:

• chr5-10810477-C-A
• chr5-10810477-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 0.155 in 152,134 control chromosomes in the GnomAD database, including 2,330 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 0.15 (2330 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0690
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.206 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: 0.155 AC: 23525 AN: 152014 Hom.: 2331 Cov.: 32

Gnomad AFR AF: 0.0545

Gnomad AMI AF: 0.246

Gnomad AMR AF: 0.136

Gnomad ASJ AF: 0.223

Gnomad EAS AF: 0.0229

Gnomad SAS AF: 0.178

Gnomad FIN AF: 0.247

Gnomad MID AF: 0.280

Gnomad NFE AF: 0.208

Gnomad OTH AF: 0.170

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

GnomAD4 genome AF: 0.155 AC: 23528 AN: 152134 Hom.: 2330 Cov.: 32 AF XY: 0.154 AC XY: 11480 AN XY: 74364

African (AFR) AF: 0.0547 AC: 2273 AN: 41554

American (AMR) AF: 0.136 AC: 2080 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.223 AC: 773 AN: 3464

East Asian (EAS) AF: 0.0230 AC: 119 AN: 5174

South Asian (SAS) AF: 0.178 AC: 859 AN: 4828

European-Finnish (FIN) AF: 0.247 AC: 2603 AN: 10556

Middle Eastern (MID) AF: 0.262 AC: 77 AN: 294

European-Non Finnish (NFE) AF: 0.208 AC: 14162 AN: 67962

Other (OTH) AF: 0.170 AC: 359 AN: 2116

Alfa AF: 0.111 Hom.: 249

Bravo AF: 0.144

Asia WGS AF: 0.118 AC: 414 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.0
DANN	Benign	0.57
PhyloP100		0.069

Splicing

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

Other links and lift over

dbSNP: rs17771257; hg19: chr5-10810589;