rs4937786

Variant names:

• chr11-112882384-C-A
• rs4937786

Your query was ambiguous. Multiple possible variants found:

• chr11-112882384-C-A
• chr11-112882384-C-T

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 0.191 in 152,058 control chromosomes in the GnomAD database, including 3,924 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 0.19 (3924 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.30

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 (EAS) allele frequency at 95% confidence interval = 0.575 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: 0.191 AC: 29023 AN: 151940 Hom.: 3921 Cov.: 32

Gnomad AFR AF: 0.0542

Gnomad AMI AF: 0.143

Gnomad AMR AF: 0.311

Gnomad ASJ AF: 0.189

Gnomad EAS AF: 0.593

Gnomad SAS AF: 0.267

Gnomad FIN AF: 0.270

Gnomad MID AF: 0.185

Gnomad NFE AF: 0.200

Gnomad OTH AF: 0.202

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

GnomAD4 genome AF: 0.191 AC: 29022 AN: 152058 Hom.: 3924 Cov.: 32 AF XY: 0.202 AC XY: 14987 AN XY: 74334

Gnomad4 AFR AF: 0.0542

Gnomad4 AMR AF: 0.312

Gnomad4 ASJ AF: 0.189

Gnomad4 EAS AF: 0.593

Gnomad4 SAS AF: 0.266

Gnomad4 FIN AF: 0.270

Gnomad4 NFE AF: 0.200

Gnomad4 OTH AF: 0.202

Alfa AF: 0.201 Hom.: 3458

Bravo AF: 0.190

Asia WGS AF: 0.388 AC: 1348 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.17
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4937786; hg19: chr11-112753107;