rs11763011

Variant names:

• chr7-73869818-A-G
• rs11763011

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 0.483 in 151,802 control chromosomes in the GnomAD database, including 18,900 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 0.48 (18900 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.216

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 (NFE) allele frequency at 95% confidence interval = 0.584 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: 0.483 AC: 73307 AN: 151686 Hom.: 18888 Cov.: 31

Gnomad AFR AF: 0.297

Gnomad AMI AF: 0.717

Gnomad AMR AF: 0.462

Gnomad ASJ AF: 0.533

Gnomad EAS AF: 0.439

Gnomad SAS AF: 0.495

Gnomad FIN AF: 0.543

Gnomad MID AF: 0.440

Gnomad NFE AF: 0.589

Gnomad OTH AF: 0.482

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

GnomAD4 genome AF: 0.483 AC: 73357 AN: 151802 Hom.: 18900 Cov.: 31 AF XY: 0.481 AC XY: 35666 AN XY: 74168

Gnomad4 AFR AF: 0.298

Gnomad4 AMR AF: 0.462

Gnomad4 ASJ AF: 0.533

Gnomad4 EAS AF: 0.439

Gnomad4 SAS AF: 0.496

Gnomad4 FIN AF: 0.543

Gnomad4 NFE AF: 0.589

Gnomad4 OTH AF: 0.476

Alfa AF: 0.561 Hom.: 19421

Bravo AF: 0.470

Asia WGS AF: 0.409 AC: 1427 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.3
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11763011; hg19: chr7-73284148;