rs7940866

Variant names:

• chr11-130947684-T-A
• rs7940866

Your query was ambiguous. Multiple possible variants found:

• chr11-130947684-T-A
• chr11-130947684-T-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 0.528 in 151,662 control chromosomes in the GnomAD database, including 21,537 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 0.53 (21537 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.122

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.617 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: 0.528 AC: 80006 AN: 151546 Hom.: 21510 Cov.: 31

Gnomad AFR AF: 0.623

Gnomad AMI AF: 0.563

Gnomad AMR AF: 0.477

Gnomad ASJ AF: 0.425

Gnomad EAS AF: 0.539

Gnomad SAS AF: 0.595

Gnomad FIN AF: 0.483

Gnomad MID AF: 0.397

Gnomad NFE AF: 0.489

Gnomad OTH AF: 0.500

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

GnomAD4 genome AF: 0.528 AC: 80089 AN: 151662 Hom.: 21537 Cov.: 31 AF XY: 0.527 AC XY: 39036 AN XY: 74086

Gnomad4 AFR AF: 0.623

Gnomad4 AMR AF: 0.477

Gnomad4 ASJ AF: 0.425

Gnomad4 EAS AF: 0.538

Gnomad4 SAS AF: 0.594

Gnomad4 FIN AF: 0.483

Gnomad4 NFE AF: 0.489

Gnomad4 OTH AF: 0.502

Alfa AF: 0.495 Hom.: 2264

Bravo AF: 0.534

Asia WGS AF: 0.609 AC: 2117 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.5
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7940866; hg19: chr11-130817579;