chr8-91405039-A-G

Position:

• chr8-91405039-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 0.0805 in 151,436 control chromosomes in the GnomAD database, including 633 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 0.080 (633 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.132

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.146 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: 0.0805 AC: 12174 AN: 151320 Hom.: 632 Cov.: 31

Gnomad AFR AF: 0.149

Gnomad AMI AF: 0.0658

Gnomad AMR AF: 0.0717

Gnomad ASJ AF: 0.0291

Gnomad EAS AF: 0.0312

Gnomad SAS AF: 0.0452

Gnomad FIN AF: 0.0184

Gnomad MID AF: 0.0287

Gnomad NFE AF: 0.0592

Gnomad OTH AF: 0.0864

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

GnomAD4 genome AF: 0.0805 AC: 12186 AN: 151436 Hom.: 633 Cov.: 31 AF XY: 0.0765 AC XY: 5657 AN XY: 73992

Gnomad4 AFR AF: 0.149

Gnomad4 AMR AF: 0.0716

Gnomad4 ASJ AF: 0.0291

Gnomad4 EAS AF: 0.0314

Gnomad4 SAS AF: 0.0455

Gnomad4 FIN AF: 0.0184

Gnomad4 NFE AF: 0.0592

Gnomad4 OTH AF: 0.0851

Alfa AF: 0.0626 Hom.: 419

Bravo AF: 0.0887

Asia WGS AF: 0.0500 AC: 173 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	3.7
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs13267998; hg19: chr8-92417267; COSMIC: COSV66722434;