rs11814448

Variant names:

• chr10-22026914-A-C
• rs11814448

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 0.199 in 151,860 control chromosomes in the GnomAD database, including 8,844 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 0.20 (8844 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.910
• Publications: 63 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 = 0.637 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.198 AC: 30117 AN: 151744 Hom.: 8807 Cov.: 33

Gnomad AFR AF: 0.643

Gnomad AMI AF: 0.0692

Gnomad AMR AF: 0.0878

Gnomad ASJ AF: 0.0208

Gnomad EAS AF: 0.00637

Gnomad SAS AF: 0.0292

Gnomad FIN AF: 0.00820

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.0216

Gnomad OTH AF: 0.160

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

GnomAD4 genome AF: 0.199 AC: 30209 AN: 151860 Hom.: 8844 Cov.: 33 AF XY: 0.191 AC XY: 14209 AN XY: 74230

African (AFR) AF: 0.643 AC: 26654 AN: 41428

American (AMR) AF: 0.0875 AC: 1336 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.0208 AC: 72 AN: 3466

East Asian (EAS) AF: 0.00638 AC: 33 AN: 5170

South Asian (SAS) AF: 0.0288 AC: 139 AN: 4820

European-Finnish (FIN) AF: 0.00820 AC: 86 AN: 10486

Middle Eastern (MID) AF: 0.0782 AC: 23 AN: 294

European-Non Finnish (NFE) AF: 0.0216 AC: 1468 AN: 67912

Other (OTH) AF: 0.159 AC: 335 AN: 2112

Alfa AF: 0.0933 Hom.: 6562

Bravo AF: 0.225

Asia WGS AF: 0.0700 AC: 245 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.11
DANN	Benign	0.44
PhyloP100		-0.91

Splicing

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

Other links and lift over

dbSNP: rs11814448; hg19: chr10-22315843;