9-73794510-A-G

Position:

• chr9-73794510-A-G

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 0.877 in 151,360 control chromosomes in the GnomAD database, including 59,002 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 0.88 (59002 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.608

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.947 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.877 AC: 132606 AN: 151244 Hom.: 58978 Cov.: 30

Gnomad AFR AF: 0.715

Gnomad AMI AF: 0.989

Gnomad AMR AF: 0.866

Gnomad ASJ AF: 0.948

Gnomad EAS AF: 0.949

Gnomad SAS AF: 0.884

Gnomad FIN AF: 0.958

Gnomad MID AF: 0.942

Gnomad NFE AF: 0.953

Gnomad OTH AF: 0.901

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

GnomAD4 genome AF: 0.877 AC: 132682 AN: 151360 Hom.: 59002 Cov.: 30 AF XY: 0.878 AC XY: 64922 AN XY: 73954

Gnomad4 AFR AF: 0.715

Gnomad4 AMR AF: 0.866

Gnomad4 ASJ AF: 0.948

Gnomad4 EAS AF: 0.950

Gnomad4 SAS AF: 0.884

Gnomad4 FIN AF: 0.958

Gnomad4 NFE AF: 0.953

Gnomad4 OTH AF: 0.899

Alfa AF: 0.913 Hom.: 7500

Bravo AF: 0.862

Asia WGS AF: 0.873 AC: 2995 AN: 3430

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	7.1
DANN	Benign	0.64

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1379911; hg19: chr9-76409426;