rs7952122

Variant names:

• chr11-68006427-G-A
• rs7952122

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 0.229 in 151,926 control chromosomes in the GnomAD database, including 4,504 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 0.23 (4504 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.724

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.347 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: 0.229 AC: 34765 AN: 151808 Hom.: 4502 Cov.: 31

Gnomad AFR AF: 0.352

Gnomad AMI AF: 0.310

Gnomad AMR AF: 0.161

Gnomad ASJ AF: 0.166

Gnomad EAS AF: 0.203

Gnomad SAS AF: 0.127

Gnomad FIN AF: 0.0903

Gnomad MID AF: 0.166

Gnomad NFE AF: 0.203

Gnomad OTH AF: 0.228

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

GnomAD4 genome AF: 0.229 AC: 34801 AN: 151926 Hom.: 4504 Cov.: 31 AF XY: 0.221 AC XY: 16379 AN XY: 74250

Gnomad4 AFR AF: 0.351

Gnomad4 AMR AF: 0.161

Gnomad4 ASJ AF: 0.166

Gnomad4 EAS AF: 0.203

Gnomad4 SAS AF: 0.127

Gnomad4 FIN AF: 0.0903

Gnomad4 NFE AF: 0.203

Gnomad4 OTH AF: 0.228

Alfa AF: 0.205 Hom.: 5210

Bravo AF: 0.240

Asia WGS AF: 0.184 AC: 638 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.47
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7952122; hg19: chr11-67773897;