4-183520764-T-G

Variant names:

• chr4-183520764-T-G
• rs11732255

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 0.47 in 152,070 control chromosomes in the GnomAD database, including 19,398 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 0.47 (19398 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.549
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.631 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: 0.471 AC: 71509 AN: 151952 Hom.: 19399 Cov.: 32

Gnomad AFR AF: 0.225

Gnomad AMI AF: 0.623

Gnomad AMR AF: 0.483

Gnomad ASJ AF: 0.527

Gnomad EAS AF: 0.147

Gnomad SAS AF: 0.499

Gnomad FIN AF: 0.462

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.636

Gnomad OTH AF: 0.497

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

GnomAD4 genome AF: 0.470 AC: 71526 AN: 152070 Hom.: 19398 Cov.: 32 AF XY: 0.460 AC XY: 34225 AN XY: 74338

African (AFR) AF: 0.224 AC: 9295 AN: 41470

American (AMR) AF: 0.483 AC: 7383 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.527 AC: 1829 AN: 3470

East Asian (EAS) AF: 0.148 AC: 764 AN: 5176

South Asian (SAS) AF: 0.501 AC: 2410 AN: 4814

European-Finnish (FIN) AF: 0.462 AC: 4880 AN: 10574

Middle Eastern (MID) AF: 0.531 AC: 156 AN: 294

European-Non Finnish (NFE) AF: 0.636 AC: 43203 AN: 67972

Other (OTH) AF: 0.492 AC: 1038 AN: 2110

Alfa AF: 0.579 Hom.: 40403

Bravo AF: 0.458

Asia WGS AF: 0.326 AC: 1134 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	4.5
DANN	Benign	0.61
PhyloP100		0.55

Splicing

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

Other links and lift over

dbSNP: rs11732255; hg19: chr4-184441917;