rs11763011

Variant names:

• chr7-73869818-A-G
• rs11763011

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 14 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.298 AC: 12325 AN: 41406

American (AMR) AF: 0.462 AC: 7052 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.533 AC: 1848 AN: 3464

East Asian (EAS) AF: 0.439 AC: 2245 AN: 5110

South Asian (SAS) AF: 0.496 AC: 2389 AN: 4820

European-Finnish (FIN) AF: 0.543 AC: 5736 AN: 10564

Middle Eastern (MID) AF: 0.449 AC: 132 AN: 294

European-Non Finnish (NFE) AF: 0.589 AC: 39976 AN: 67856

Other (OTH) AF: 0.476 AC: 1003 AN: 2106

Alfa AF: 0.529 Hom.: 36678

Bravo AF: 0.470

Asia WGS AF: 0.409 AC: 1427 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.3
DANN	Benign	0.39
PhyloP100		-0.22

Splicing

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

Other links and lift over

dbSNP: rs11763011; hg19: chr7-73284148;