9-134222034-A-G

Variant names:

• chr9-134222034-A-G
• rs11185668

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 0.7 in 151,996 control chromosomes in the GnomAD database, including 38,105 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 0.70 (38105 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.143

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.817 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: 0.700 AC: 106313 AN: 151878 Hom.: 38051 Cov.: 31

Gnomad AFR AF: 0.824

Gnomad AMI AF: 0.682

Gnomad AMR AF: 0.758

Gnomad ASJ AF: 0.816

Gnomad EAS AF: 0.815

Gnomad SAS AF: 0.744

Gnomad FIN AF: 0.619

Gnomad MID AF: 0.854

Gnomad NFE AF: 0.605

Gnomad OTH AF: 0.740

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

GnomAD4 genome AF: 0.700 AC: 106431 AN: 151996 Hom.: 38105 Cov.: 31 AF XY: 0.703 AC XY: 52235 AN XY: 74284

Gnomad4 AFR AF: 0.824

Gnomad4 AMR AF: 0.758

Gnomad4 ASJ AF: 0.816

Gnomad4 EAS AF: 0.815

Gnomad4 SAS AF: 0.745

Gnomad4 FIN AF: 0.619

Gnomad4 NFE AF: 0.605

Gnomad4 OTH AF: 0.744

Alfa AF: 0.638 Hom.: 31950

Bravo AF: 0.717

Asia WGS AF: 0.808 AC: 2811 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.8
DANN	Benign	0.83

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11185668; hg19: chr9-137113880; COSMIC: COSV61535178;