rs11265930

Variant names:

• chr9-89765957-A-C
• rs11265930

Your query was ambiguous. Multiple possible variants found:

• chr9-89765957-A-C
• chr9-89765957-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 0.0705 in 152,234 control chromosomes in the GnomAD database, including 492 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 0.071 (492 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.276

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.105 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: 0.0706 AC: 10738 AN: 152116 Hom.: 492 Cov.: 32

Gnomad AFR AF: 0.0179

Gnomad AMI AF: 0.118

Gnomad AMR AF: 0.0600

Gnomad ASJ AF: 0.137

Gnomad EAS AF: 0.00115

Gnomad SAS AF: 0.0744

Gnomad FIN AF: 0.0621

Gnomad MID AF: 0.152

Gnomad NFE AF: 0.107

Gnomad OTH AF: 0.0781

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

GnomAD4 genome AF: 0.0705 AC: 10739 AN: 152234 Hom.: 492 Cov.: 32 AF XY: 0.0690 AC XY: 5138 AN XY: 74432

Gnomad4 AFR AF: 0.0178

Gnomad4 AMR AF: 0.0598

Gnomad4 ASJ AF: 0.137

Gnomad4 EAS AF: 0.00135

Gnomad4 SAS AF: 0.0750

Gnomad4 FIN AF: 0.0621

Gnomad4 NFE AF: 0.107

Gnomad4 OTH AF: 0.0773

Alfa AF: 0.0980 Hom.: 694

Bravo AF: 0.0655

Asia WGS AF: 0.0330 AC: 113 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.84
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11265930; hg19: chr9-92467404;