rs17814201

Variant names:

• chr11-36247521-G-A
• rs17814201

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 0.116 in 152,238 control chromosomes in the GnomAD database, including 1,225 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 0.12 (1225 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.723

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.193 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: 0.116 AC: 17620 AN: 152120 Hom.: 1218 Cov.: 33

Gnomad AFR AF: 0.0543

Gnomad AMI AF: 0.158

Gnomad AMR AF: 0.198

Gnomad ASJ AF: 0.0729

Gnomad EAS AF: 0.101

Gnomad SAS AF: 0.136

Gnomad FIN AF: 0.174

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.127

Gnomad OTH AF: 0.112

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

GnomAD4 genome AF: 0.116 AC: 17645 AN: 152238 Hom.: 1225 Cov.: 33 AF XY: 0.120 AC XY: 8900 AN XY: 74428

Gnomad4 AFR AF: 0.0544

Gnomad4 AMR AF: 0.199

Gnomad4 ASJ AF: 0.0729

Gnomad4 EAS AF: 0.102

Gnomad4 SAS AF: 0.136

Gnomad4 FIN AF: 0.174

Gnomad4 NFE AF: 0.127

Gnomad4 OTH AF: 0.112

Alfa AF: 0.122 Hom.: 1537

Bravo AF: 0.114

Asia WGS AF: 0.110 AC: 382 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	5.3
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17814201; hg19: chr11-36269071;