rs737383

chr11-92931709-T-C

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 0.528 in 151,860 control chromosomes in the GnomAD database, including 22,446 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 0.53 (22446 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.50

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.7 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.528 AC: 80066 AN: 151738 Hom.: 22387 Cov.: 31

Gnomad AFR AF: 0.706

Gnomad AMI AF: 0.279

Gnomad AMR AF: 0.575

Gnomad ASJ AF: 0.406

Gnomad EAS AF: 0.619

Gnomad SAS AF: 0.576

Gnomad FIN AF: 0.463

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.419

Gnomad OTH AF: 0.517

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

GnomAD4 genome AF: 0.528 AC: 80198 AN: 151860 Hom.: 22446 Cov.: 31 AF XY: 0.533 AC XY: 39539 AN XY: 74192

Gnomad4 AFR AF: 0.706

Gnomad4 AMR AF: 0.575

Gnomad4 ASJ AF: 0.406

Gnomad4 EAS AF: 0.618

Gnomad4 SAS AF: 0.577

Gnomad4 FIN AF: 0.463

Gnomad4 NFE AF: 0.419

Gnomad4 OTH AF: 0.519

Alfa AF: 0.452 Hom.: 21185

Bravo AF: 0.544

Asia WGS AF: 0.637 AC: 2214 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
Cadd	Benign	0.016
Dann	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs737383; hg19: chr11-92664875;