rs7926624

Variant names:

• chr11-2107800-A-G
• rs7926624

Your query was ambiguous. Multiple possible variants found:

• chr11-2107800-A-G
• chr11-2107800-A-T

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 0.0812 in 151,908 control chromosomes in the GnomAD database, including 612 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 0.081 (612 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.101

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 (AFR) allele frequency at 95% confidence interval = 0.135 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: 0.0810 AC: 12296 AN: 151790 Hom.: 606 Cov.: 32

Gnomad AFR AF: 0.138

Gnomad AMI AF: 0.00219

Gnomad AMR AF: 0.0570

Gnomad ASJ AF: 0.0695

Gnomad EAS AF: 0.000775

Gnomad SAS AF: 0.0353

Gnomad FIN AF: 0.0575

Gnomad MID AF: 0.0601

Gnomad NFE AF: 0.0665

Gnomad OTH AF: 0.0869

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

GnomAD4 genome AF: 0.0812 AC: 12328 AN: 151908 Hom.: 612 Cov.: 32 AF XY: 0.0796 AC XY: 5907 AN XY: 74232

Gnomad4 AFR AF: 0.138

Gnomad4 AMR AF: 0.0568

Gnomad4 ASJ AF: 0.0695

Gnomad4 EAS AF: 0.000777

Gnomad4 SAS AF: 0.0355

Gnomad4 FIN AF: 0.0575

Gnomad4 NFE AF: 0.0665

Gnomad4 OTH AF: 0.0855

Alfa AF: 0.0527 Hom.: 90

Bravo AF: 0.0854

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.7
DANN	Benign	0.44

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7926624; hg19: chr11-2129030;