8-127506926-A-C

Variant names:

• chr8-127506926-A-C
• rs9297759

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 0.883 in 152,086 control chromosomes in the GnomAD database, including 59,330 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 0.88 (59330 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.85

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 (AMR) allele frequency at 95% confidence interval = 0.906 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.883 AC: 134147 AN: 151968 Hom.: 59287 Cov.: 32

Gnomad AFR AF: 0.850

Gnomad AMI AF: 0.905

Gnomad AMR AF: 0.919

Gnomad ASJ AF: 0.941

Gnomad EAS AF: 0.853

Gnomad SAS AF: 0.868

Gnomad FIN AF: 0.838

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.901

Gnomad OTH AF: 0.903

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

GnomAD4 genome AF: 0.883 AC: 134247 AN: 152086 Hom.: 59330 Cov.: 32 AF XY: 0.881 AC XY: 65512 AN XY: 74336

Gnomad4 AFR AF: 0.850

Gnomad4 AMR AF: 0.919

Gnomad4 ASJ AF: 0.941

Gnomad4 EAS AF: 0.853

Gnomad4 SAS AF: 0.868

Gnomad4 FIN AF: 0.838

Gnomad4 NFE AF: 0.901

Gnomad4 OTH AF: 0.898

Alfa AF: 0.884 Hom.: 7796

Bravo AF: 0.885

Asia WGS AF: 0.820 AC: 2856 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	1.9
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9297759; hg19: chr8-128519171;