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. The variant received -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
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0542 AC: 2248 AN: 41502

American (AMR) AF: 0.312 AC: 4766 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.189 AC: 656 AN: 3470

East Asian (EAS) AF: 0.593 AC: 3041 AN: 5132

South Asian (SAS) AF: 0.266 AC: 1279 AN: 4812

European-Finnish (FIN) AF: 0.270 AC: 2857 AN: 10570

Middle Eastern (MID) AF: 0.175 AC: 51 AN: 292

European-Non Finnish (NFE) AF: 0.200 AC: 13569 AN: 67972

Other (OTH) AF: 0.202 AC: 425 AN: 2106

Alfa AF: 0.199 Hom.: 5290

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
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs4937786; hg19: chr11-112753107;