rs9297759

Variant names:

• chr8-127506926-A-C
• rs9297759

Your query was ambiguous. Multiple possible variants found:

• chr8-127506926-A-C
• chr8-127506926-A-T

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.850 AC: 35273 AN: 41496

American (AMR) AF: 0.919 AC: 14045 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.941 AC: 3266 AN: 3472

East Asian (EAS) AF: 0.853 AC: 4411 AN: 5174

South Asian (SAS) AF: 0.868 AC: 4180 AN: 4814

European-Finnish (FIN) AF: 0.838 AC: 8834 AN: 10540

Middle Eastern (MID) AF: 0.959 AC: 282 AN: 294

European-Non Finnish (NFE) AF: 0.901 AC: 61244 AN: 68000

Other (OTH) AF: 0.898 AC: 1894 AN: 2110

Alfa AF: 0.882 Hom.: 8068

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
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs9297759; hg19: chr8-128519171;