rs11265352

Variant names:

• chr1-160189300-A-G
• rs11265352

Your query was ambiguous. Multiple possible variants found:

• chr1-160189300-A-G
• chr1-160189300-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 0.522 in 151,782 control chromosomes in the GnomAD database, including 23,593 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 0.52 (23593 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.27

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.683 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: 0.522 AC: 79185 AN: 151664 Hom.: 23584 Cov.: 31

Gnomad AFR AF: 0.210

Gnomad AMI AF: 0.596

Gnomad AMR AF: 0.669

Gnomad ASJ AF: 0.651

Gnomad EAS AF: 0.702

Gnomad SAS AF: 0.640

Gnomad FIN AF: 0.672

Gnomad MID AF: 0.620

Gnomad NFE AF: 0.625

Gnomad OTH AF: 0.558

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

GnomAD4 genome AF: 0.522 AC: 79202 AN: 151782 Hom.: 23593 Cov.: 31 AF XY: 0.531 AC XY: 39381 AN XY: 74162

Gnomad4 AFR AF: 0.209

Gnomad4 AMR AF: 0.670

Gnomad4 ASJ AF: 0.651

Gnomad4 EAS AF: 0.702

Gnomad4 SAS AF: 0.642

Gnomad4 FIN AF: 0.672

Gnomad4 NFE AF: 0.625

Gnomad4 OTH AF: 0.560

Alfa AF: 0.614 Hom.: 37527

Bravo AF: 0.509

Asia WGS AF: 0.624 AC: 2171 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.028
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11265352; hg19: chr1-160159090;