rs7532266

Variant names:

• chr1-23225130-A-C
• rs7532266

Your query was ambiguous. Multiple possible variants found:

• chr1-23225130-A-C
• chr1-23225130-A-G
• chr1-23225130-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.663 in 151,990 control chromosomes in the GnomAD database, including 33,715 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 0.66 (33715 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.249

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.726 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: 0.663 AC: 100674 AN: 151872 Hom.: 33687 Cov.: 31

Gnomad AFR AF: 0.566

Gnomad AMI AF: 0.837

Gnomad AMR AF: 0.738

Gnomad ASJ AF: 0.625

Gnomad EAS AF: 0.727

Gnomad SAS AF: 0.735

Gnomad FIN AF: 0.679

Gnomad MID AF: 0.617

Gnomad NFE AF: 0.692

Gnomad OTH AF: 0.676

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

GnomAD4 genome AF: 0.663 AC: 100744 AN: 151990 Hom.: 33715 Cov.: 31 AF XY: 0.666 AC XY: 49470 AN XY: 74288

Gnomad4 AFR AF: 0.567

Gnomad4 AMR AF: 0.737

Gnomad4 ASJ AF: 0.625

Gnomad4 EAS AF: 0.727

Gnomad4 SAS AF: 0.735

Gnomad4 FIN AF: 0.679

Gnomad4 NFE AF: 0.692

Gnomad4 OTH AF: 0.676

Alfa AF: 0.678 Hom.: 14005

Bravo AF: 0.662

Asia WGS AF: 0.729 AC: 2534 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	4.4
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7532266; hg19: chr1-23551623;