rs3758653

Variant names:

• chr11-636399-T-C
• rs3758653

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 0.2 in 152,058 control chromosomes in the GnomAD database, including 3,152 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 0.20 (3152 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.90

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.342 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: 0.200 AC: 30343 AN: 151940 Hom.: 3138 Cov.: 32

Gnomad AFR AF: 0.181

Gnomad AMI AF: 0.165

Gnomad AMR AF: 0.268

Gnomad ASJ AF: 0.178

Gnomad EAS AF: 0.264

Gnomad SAS AF: 0.356

Gnomad FIN AF: 0.242

Gnomad MID AF: 0.247

Gnomad NFE AF: 0.174

Gnomad OTH AF: 0.209

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

GnomAD4 genome AF: 0.200 AC: 30401 AN: 152058 Hom.: 3152 Cov.: 32 AF XY: 0.207 AC XY: 15385 AN XY: 74346

Gnomad4 AFR AF: 0.182

Gnomad4 AMR AF: 0.268

Gnomad4 ASJ AF: 0.178

Gnomad4 EAS AF: 0.264

Gnomad4 SAS AF: 0.356

Gnomad4 FIN AF: 0.242

Gnomad4 NFE AF: 0.174

Gnomad4 OTH AF: 0.212

Alfa AF: 0.186 Hom.: 3257

Bravo AF: 0.198

Asia WGS AF: 0.322 AC: 1118 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	1.2
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3758653; hg19: chr11-636399;