rs1866226

Variant names:

• chr14-23670798-G-A
• rs1866226

Your query was ambiguous. Multiple possible variants found:

• chr14-23670798-G-A
• chr14-23670798-G-C
• chr14-23670798-G-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 0.478 in 152,036 control chromosomes in the GnomAD database, including 18,315 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 0.48 (18315 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.223
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.55 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: 0.478 AC: 72654 AN: 151918 Hom.: 18315 Cov.: 32

Gnomad AFR AF: 0.325

Gnomad AMI AF: 0.703

Gnomad AMR AF: 0.461

Gnomad ASJ AF: 0.616

Gnomad EAS AF: 0.352

Gnomad SAS AF: 0.490

Gnomad FIN AF: 0.592

Gnomad MID AF: 0.623

Gnomad NFE AF: 0.554

Gnomad OTH AF: 0.519

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

GnomAD4 genome AF: 0.478 AC: 72678 AN: 152036 Hom.: 18315 Cov.: 32 AF XY: 0.479 AC XY: 35633 AN XY: 74334

African (AFR) AF: 0.325 AC: 13463 AN: 41424

American (AMR) AF: 0.461 AC: 7053 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.616 AC: 2136 AN: 3468

East Asian (EAS) AF: 0.353 AC: 1821 AN: 5164

South Asian (SAS) AF: 0.488 AC: 2355 AN: 4822

European-Finnish (FIN) AF: 0.592 AC: 6257 AN: 10572

Middle Eastern (MID) AF: 0.622 AC: 183 AN: 294

European-Non Finnish (NFE) AF: 0.554 AC: 37680 AN: 67970

Other (OTH) AF: 0.516 AC: 1089 AN: 2112

Alfa AF: 0.527 Hom.: 11260

Bravo AF: 0.462

Asia WGS AF: 0.395 AC: 1378 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	3.2
DANN	Benign	0.47
PhyloP100		-0.22

Splicing

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

Other links and lift over

dbSNP: rs1866226; hg19: chr14-24140007;