rs7927911

Variant names:

• chr11-81785217-C-A
• rs7927911

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 0.227 in 152,106 control chromosomes in the GnomAD database, including 4,039 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 (4039 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.136

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.41 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: 0.227 AC: 34506 AN: 151988 Hom.: 4043 Cov.: 32

Gnomad AFR AF: 0.223

Gnomad AMI AF: 0.120

Gnomad AMR AF: 0.215

Gnomad ASJ AF: 0.278

Gnomad EAS AF: 0.184

Gnomad SAS AF: 0.426

Gnomad FIN AF: 0.197

Gnomad MID AF: 0.383

Gnomad NFE AF: 0.224

Gnomad OTH AF: 0.247

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

GnomAD4 genome AF: 0.227 AC: 34520 AN: 152106 Hom.: 4039 Cov.: 32 AF XY: 0.229 AC XY: 17013 AN XY: 74392

Gnomad4 AFR AF: 0.223

Gnomad4 AMR AF: 0.215

Gnomad4 ASJ AF: 0.278

Gnomad4 EAS AF: 0.183

Gnomad4 SAS AF: 0.426

Gnomad4 FIN AF: 0.197

Gnomad4 NFE AF: 0.224

Gnomad4 OTH AF: 0.248

Alfa AF: 0.234 Hom.: 2288

Bravo AF: 0.224

Asia WGS AF: 0.314 AC: 1090 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	1.1
DANN	Benign	0.45

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7927911; hg19: chr11-81496259;