rs4756052

Variant names:

• chr11-33830926-G-A
• rs4756052

Your query was ambiguous. Multiple possible variants found:

• chr11-33830926-G-A
• chr11-33830926-G-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 0.238 in 152,160 control chromosomes in the GnomAD database, including 5,699 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 0.24 (5699 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.15

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.335 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: 0.238 AC: 36187 AN: 152042 Hom.: 5703 Cov.: 32

Gnomad AFR AF: 0.0690

Gnomad AMI AF: 0.298

Gnomad AMR AF: 0.253

Gnomad ASJ AF: 0.551

Gnomad EAS AF: 0.00403

Gnomad SAS AF: 0.208

Gnomad FIN AF: 0.233

Gnomad MID AF: 0.456

Gnomad NFE AF: 0.338

Gnomad OTH AF: 0.307

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

GnomAD4 genome AF: 0.238 AC: 36172 AN: 152160 Hom.: 5699 Cov.: 32 AF XY: 0.231 AC XY: 17167 AN XY: 74390

Gnomad4 AFR AF: 0.0688

Gnomad4 AMR AF: 0.253

Gnomad4 ASJ AF: 0.551

Gnomad4 EAS AF: 0.00404

Gnomad4 SAS AF: 0.209

Gnomad4 FIN AF: 0.233

Gnomad4 NFE AF: 0.338

Gnomad4 OTH AF: 0.302

Alfa AF: 0.288 Hom.: 3036

Bravo AF: 0.234

Asia WGS AF: 0.105 AC: 368 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.99
DANN	Benign	0.56

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4756052; hg19: chr11-33852472;