17-47232327-A-G

Variant names:

• chr17-47232327-A-G
• rs11079764

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 0.446 in 152,028 control chromosomes in the GnomAD database, including 16,725 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 0.45 (16725 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.927
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.561 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: 0.446 AC: 67728 AN: 151910 Hom.: 16735 Cov.: 32

Gnomad AFR AF: 0.241

Gnomad AMI AF: 0.624

Gnomad AMR AF: 0.389

Gnomad ASJ AF: 0.521

Gnomad EAS AF: 0.358

Gnomad SAS AF: 0.548

Gnomad FIN AF: 0.501

Gnomad MID AF: 0.589

Gnomad NFE AF: 0.566

Gnomad OTH AF: 0.490

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

GnomAD4 genome AF: 0.446 AC: 67732 AN: 152028 Hom.: 16725 Cov.: 32 AF XY: 0.441 AC XY: 32762 AN XY: 74312

African (AFR) AF: 0.241 AC: 9986 AN: 41456

American (AMR) AF: 0.389 AC: 5942 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.521 AC: 1809 AN: 3472

East Asian (EAS) AF: 0.359 AC: 1854 AN: 5166

South Asian (SAS) AF: 0.546 AC: 2624 AN: 4810

European-Finnish (FIN) AF: 0.501 AC: 5293 AN: 10572

Middle Eastern (MID) AF: 0.602 AC: 177 AN: 294

European-Non Finnish (NFE) AF: 0.566 AC: 38442 AN: 67960

Other (OTH) AF: 0.490 AC: 1036 AN: 2114

Alfa AF: 0.506 Hom.: 41274

Bravo AF: 0.427

Asia WGS AF: 0.463 AC: 1611 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.089
DANN	Benign	0.56
PhyloP100		-0.93

Splicing

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

Other links and lift over

dbSNP: rs11079764; hg19: chr17-45309693;