9-125241509-GCC-GC

Position:

• chr9-125241509-GCC-GC

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.71 (39647 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.122

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.878 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: 0.712 AC: 108169 AN: 151848 Hom.: 39592 Cov.: 0

Gnomad AFR AF: 0.886

Gnomad AMI AF: 0.604

Gnomad AMR AF: 0.723

Gnomad ASJ AF: 0.576

Gnomad EAS AF: 0.702

Gnomad SAS AF: 0.663

Gnomad FIN AF: 0.756

Gnomad MID AF: 0.697

Gnomad NFE AF: 0.611

Gnomad OTH AF: 0.694

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

GnomAD4 genome AF: 0.713 AC: 108287 AN: 151966 Hom.: 39647 Cov.: 0 AF XY: 0.718 AC XY: 53314 AN XY: 74262

Gnomad4 AFR AF: 0.886

Gnomad4 AMR AF: 0.723

Gnomad4 ASJ AF: 0.576

Gnomad4 EAS AF: 0.703

Gnomad4 SAS AF: 0.663

Gnomad4 FIN AF: 0.756

Gnomad4 NFE AF: 0.611

Gnomad4 OTH AF: 0.691

Bravo AF: 0.722

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3216733; hg19: chr9-128003788;