rs11621151

Variant names:

• chr14-28554895-C-T
• rs11621151

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 0.0815 in 152,062 control chromosomes in the GnomAD database, including 744 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 0.082 (744 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.307

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.204 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: 0.0814 AC: 12363 AN: 151942 Hom.: 735 Cov.: 32

Gnomad AFR AF: 0.0470

Gnomad AMI AF: 0.124

Gnomad AMR AF: 0.208

Gnomad ASJ AF: 0.129

Gnomad EAS AF: 0.0313

Gnomad SAS AF: 0.0408

Gnomad FIN AF: 0.0721

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.0791

Gnomad OTH AF: 0.0761

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

GnomAD4 genome AF: 0.0815 AC: 12396 AN: 152062 Hom.: 744 Cov.: 32 AF XY: 0.0824 AC XY: 6125 AN XY: 74324

Gnomad4 AFR AF: 0.0470

Gnomad4 AMR AF: 0.210

Gnomad4 ASJ AF: 0.129

Gnomad4 EAS AF: 0.0314

Gnomad4 SAS AF: 0.0414

Gnomad4 FIN AF: 0.0721

Gnomad4 NFE AF: 0.0791

Gnomad4 OTH AF: 0.0753

Alfa AF: 0.0841 Hom.: 929

Bravo AF: 0.0896

Asia WGS AF: 0.0460 AC: 160 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	8.5
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11621151; hg19: chr14-29024101;