9-34167735-T-G

Position:

• chr9-34167735-T-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 0.343 in 152,120 control chromosomes in the GnomAD database, including 9,769 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 0.34 (9769 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.833

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.717 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.343 AC: 52090 AN: 152004 Hom.: 9757 Cov.: 32

Gnomad AFR AF: 0.259

Gnomad AMI AF: 0.333

Gnomad AMR AF: 0.397

Gnomad ASJ AF: 0.348

Gnomad EAS AF: 0.736

Gnomad SAS AF: 0.528

Gnomad FIN AF: 0.343

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.337

Gnomad OTH AF: 0.363

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

GnomAD4 genome AF: 0.343 AC: 52140 AN: 152120 Hom.: 9769 Cov.: 32 AF XY: 0.351 AC XY: 26101 AN XY: 74350

Gnomad4 AFR AF: 0.259

Gnomad4 AMR AF: 0.397

Gnomad4 ASJ AF: 0.348

Gnomad4 EAS AF: 0.736

Gnomad4 SAS AF: 0.530

Gnomad4 FIN AF: 0.343

Gnomad4 NFE AF: 0.337

Gnomad4 OTH AF: 0.367

Alfa AF: 0.341 Hom.: 8656

Bravo AF: 0.343

Asia WGS AF: 0.590 AC: 2046 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	6.4
DANN	Benign	0.89

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7018487; hg19: chr9-34167733; COSMIC: COSV63496075;