chr11-36480237-A-T

Variant names:

• chr11-36480237-A-T
• rs331463

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 0.756 in 152,050 control chromosomes in the GnomAD database, including 45,249 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 0.76 (45249 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.492

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.918 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: 0.756 AC: 114892 AN: 151932 Hom.: 45251 Cov.: 31

Gnomad AFR AF: 0.509

Gnomad AMI AF: 0.927

Gnomad AMR AF: 0.862

Gnomad ASJ AF: 0.831

Gnomad EAS AF: 0.941

Gnomad SAS AF: 0.819

Gnomad FIN AF: 0.814

Gnomad MID AF: 0.835

Gnomad NFE AF: 0.847

Gnomad OTH AF: 0.785

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

GnomAD4 genome AF: 0.756 AC: 114912 AN: 152050 Hom.: 45249 Cov.: 31 AF XY: 0.760 AC XY: 56440 AN XY: 74310

Gnomad4 AFR AF: 0.509

Gnomad4 AMR AF: 0.863

Gnomad4 ASJ AF: 0.831

Gnomad4 EAS AF: 0.940

Gnomad4 SAS AF: 0.818

Gnomad4 FIN AF: 0.814

Gnomad4 NFE AF: 0.847

Gnomad4 OTH AF: 0.787

Alfa AF: 0.789 Hom.: 5995

Bravo AF: 0.751

Asia WGS AF: 0.863 AC: 3001 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	4.4
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs331463; hg19: chr11-36501787;