rs9297532

Positions:

• chr8-114723582-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 0.0563 in 152,114 control chromosomes in the GnomAD database, including 501 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 0.056 (501 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.23

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.141 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: 0.0562 AC: 8539 AN: 151996 Hom.: 499 Cov.: 32

Gnomad AFR AF: 0.145

Gnomad AMI AF: 0.00877

Gnomad AMR AF: 0.0546

Gnomad ASJ AF: 0.0173

Gnomad EAS AF: 0.000578

Gnomad SAS AF: 0.0139

Gnomad FIN AF: 0.0294

Gnomad MID AF: 0.0127

Gnomad NFE AF: 0.0169

Gnomad OTH AF: 0.0580

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

GnomAD4 genome AF: 0.0563 AC: 8558 AN: 152114 Hom.: 501 Cov.: 32 AF XY: 0.0557 AC XY: 4146 AN XY: 74390

Gnomad4 AFR AF: 0.145

Gnomad4 AMR AF: 0.0550

Gnomad4 ASJ AF: 0.0173

Gnomad4 EAS AF: 0.000579

Gnomad4 SAS AF: 0.0137

Gnomad4 FIN AF: 0.0294

Gnomad4 NFE AF: 0.0169

Gnomad4 OTH AF: 0.0574

Alfa AF: 0.0413 Hom.: 34

Bravo AF: 0.0618

Asia WGS AF: 0.0210 AC: 72 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	4.2
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9297532; hg19: chr8-115735811;