rs748923

Variant names:

• chr11-13184613-C-A
• rs748923

Your query was ambiguous. Multiple possible variants found:

• chr11-13184613-C-A
• chr11-13184613-C-G

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 0.166 in 152,094 control chromosomes in the GnomAD database, including 2,802 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 0.17 (2802 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.856

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.402 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: 0.166 AC: 25203 AN: 151976 Hom.: 2802 Cov.: 32

Gnomad AFR AF: 0.277

Gnomad AMI AF: 0.0515

Gnomad AMR AF: 0.0922

Gnomad ASJ AF: 0.0530

Gnomad EAS AF: 0.417

Gnomad SAS AF: 0.210

Gnomad FIN AF: 0.211

Gnomad MID AF: 0.0348

Gnomad NFE AF: 0.0947

Gnomad OTH AF: 0.120

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

GnomAD4 genome AF: 0.166 AC: 25226 AN: 152094 Hom.: 2802 Cov.: 32 AF XY: 0.172 AC XY: 12803 AN XY: 74344

Gnomad4 AFR AF: 0.277

Gnomad4 AMR AF: 0.0925

Gnomad4 ASJ AF: 0.0530

Gnomad4 EAS AF: 0.417

Gnomad4 SAS AF: 0.210

Gnomad4 FIN AF: 0.211

Gnomad4 NFE AF: 0.0947

Gnomad4 OTH AF: 0.120

Alfa AF: 0.0973 Hom.: 1240

Bravo AF: 0.161

Asia WGS AF: 0.266 AC: 925 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.27
DANN	Benign	0.23

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs748923; hg19: chr11-13206160;