rs1448818

Variant names:

• chr4-110649067-A-C
• rs1448818

Your query was ambiguous. Multiple possible variants found:

• chr4-110649067-A-C
• chr4-110649067-A-G
• chr4-110649067-A-T

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 0.283 in 152,080 control chromosomes in the GnomAD database, including 6,354 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 0.28 (6354 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.578
• Publications: 21 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.347 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: 0.283 AC: 43054 AN: 151962 Hom.: 6347 Cov.: 33

Gnomad AFR AF: 0.353

Gnomad AMI AF: 0.229

Gnomad AMR AF: 0.227

Gnomad ASJ AF: 0.226

Gnomad EAS AF: 0.306

Gnomad SAS AF: 0.162

Gnomad FIN AF: 0.308

Gnomad MID AF: 0.190

Gnomad NFE AF: 0.261

Gnomad OTH AF: 0.284

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

GnomAD4 genome AF: 0.283 AC: 43072 AN: 152080 Hom.: 6354 Cov.: 33 AF XY: 0.284 AC XY: 21101 AN XY: 74354

African (AFR) AF: 0.352 AC: 14595 AN: 41444

American (AMR) AF: 0.227 AC: 3476 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.226 AC: 783 AN: 3466

East Asian (EAS) AF: 0.306 AC: 1586 AN: 5186

South Asian (SAS) AF: 0.161 AC: 779 AN: 4828

European-Finnish (FIN) AF: 0.308 AC: 3261 AN: 10584

Middle Eastern (MID) AF: 0.194 AC: 57 AN: 294

European-Non Finnish (NFE) AF: 0.261 AC: 17734 AN: 67962

Other (OTH) AF: 0.281 AC: 592 AN: 2110

Alfa AF: 0.259 Hom.: 16994

Bravo AF: 0.281

Asia WGS AF: 0.223 AC: 775 AN: 3460

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	4.5
DANN	Benign	0.65
PhyloP100		0.58

Splicing

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

Other links and lift over

dbSNP: rs1448818; hg19: chr4-111570223;