9-133278860-T-G

Position:

• chr9-133278860-T-G

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_Strong BS2

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 0.0014 (11 hom., cov: 15)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.27

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BP4: Computational evidence support a benign effect (Cadd=2.638).
• BS2: High Homozygotes in GnomAd4 at 11 gene

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: 0.00138 AC: 102 AN: 74114 Hom.: 11 Cov.: 15

Gnomad AFR AF: 0.00167

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00145

Gnomad ASJ AF: 0.00108

Gnomad EAS AF: 0.00190

Gnomad SAS AF: 0.00226

Gnomad FIN AF: 0.000966

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00120

Gnomad OTH AF: 0.00198

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

GnomAD4 genome AF: 0.00137 AC: 102 AN: 74196 Hom.: 11 Cov.: 15 AF XY: 0.00139 AC XY: 50 AN XY: 36038

Gnomad4 AFR AF: 0.00166

Gnomad4 AMR AF: 0.00145

Gnomad4 ASJ AF: 0.00108

Gnomad4 EAS AF: 0.00191

Gnomad4 SAS AF: 0.00226

Gnomad4 FIN AF: 0.000966

Gnomad4 NFE AF: 0.00120

Gnomad4 OTH AF: 0.00196

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
CADD	Benign	2.6

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs649129; hg19: -;