11-73987015-G-C

Variant names:

• chr11-73987015-G-C
• rs591758

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 0.5 in 152,000 control chromosomes in the GnomAD database, including 21,161 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 0.50 (21161 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.455
• Publications: 22 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.766 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: 0.500 AC: 75978 AN: 151882 Hom.: 21144 Cov.: 32

Gnomad AFR AF: 0.773

Gnomad AMI AF: 0.259

Gnomad AMR AF: 0.471

Gnomad ASJ AF: 0.368

Gnomad EAS AF: 0.432

Gnomad SAS AF: 0.362

Gnomad FIN AF: 0.406

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.382

Gnomad OTH AF: 0.454

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

GnomAD4 genome AF: 0.500 AC: 76038 AN: 152000 Hom.: 21161 Cov.: 32 AF XY: 0.497 AC XY: 36898 AN XY: 74274

African (AFR) AF: 0.773 AC: 32045 AN: 41474

American (AMR) AF: 0.472 AC: 7193 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.368 AC: 1276 AN: 3464

East Asian (EAS) AF: 0.432 AC: 2230 AN: 5164

South Asian (SAS) AF: 0.359 AC: 1728 AN: 4814

European-Finnish (FIN) AF: 0.406 AC: 4287 AN: 10566

Middle Eastern (MID) AF: 0.361 AC: 106 AN: 294

European-Non Finnish (NFE) AF: 0.382 AC: 25988 AN: 67954

Other (OTH) AF: 0.449 AC: 949 AN: 2112

Alfa AF: 0.284 Hom.: 674

Bravo AF: 0.518

Asia WGS AF: 0.415 AC: 1440 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.3
DANN	Benign	0.48
PhyloP100		-0.46

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs591758;

hg19: chr11-73698060;